{"orpha":98518,"name":"Congenital cranial dysinnervation disorder","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CCDD"],"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-98518/","orphanet_url":"https://www.orpha.net/en/disease/detail/98518","names":{"fr":{"name":"Trouble de dysinnervation crânienne congénitale","synonyms":["Syndrome congénital de dysinnervation des nerfs crâniens"]},"de":{"name":"Kongenitales kraniales Dysinnervationssyndrom","synonyms":["CCDD"]},"es":{"name":"Trastorno congénito de la inervación craneal","synonyms":["CCDD"]},"it":{"name":"Aplasia dei nuclei e dei nervi cranici","synonyms":["CCDD"]},"nl":{"name":"Congenitale craniale dysinnervatie-aandoening","synonyms":["CCDD"]},"pt":{"name":"Aplasia dos núcleos e nervos cranianos"},"pl":{"name":"Aplazja nerwu czaszkowego i jądra nerwowego","synonyms":["CCDD"]},"cs":{"name":"Kraniální nervová a nukleární aplázie","synonyms":["CCDD"]},"uk":{"name":"Аплазія черепних нервів та ядер"},"zh":{"name":"颅神经与核发育不全"},"tr":{"name":"Kraniyal sinir ve nükleer aplazi"}},"xrefs":[{"source":"UMLS","code":"C5681735","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":730382,"name":"Genetic midbrain-hindbrain malformation","classifications":[156]},{"orpha":729554,"name":"Midbrain-Hindbrain malformation","classifications":[147,181]}],"children":[{"orpha":69739,"name":"Athabaskan brainstem dysgenesis syndrome","type":"Disease"},{"orpha":69737,"name":"Bosley-Salih-Alorainy syndrome","type":"Malformation syndrome"},{"orpha":45358,"name":"Congenital fibrosis of extraocular muscles","type":"Disease"},{"orpha":306530,"name":"Congenital hereditary facial paralysis-variable hearing loss syndrome","type":"Morphological anomaly"},{"orpha":233,"name":"Duane retraction syndrome","type":"Malformation syndrome"},{"orpha":306527,"name":"Isolated hereditary congenital facial paralysis","type":"Morphological anomaly"},{"orpha":570,"name":"Moebius syndrome","type":"Disease"},{"orpha":93293,"name":"Okihiro syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}