has material basis in germline mutation in PHOX2B autonomic nervous system disorder syndromic disease congenital nervous system disorder neurocristopathy hereditary neurological disease central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease https://www.malacards.org/card/central_hypoventilation_syndrome_congenital_1 https://www.malacards.org/card/congenital_central_hypoventilation_syndrome Ondine's curse (formerly) MEDGEN:1794285 GARD:0008535 central hypoventilation syndrome, congenital MedDRA:10007982 congenital failure of autonomic control DOID:0060731 idiopathic congenital central alveolar hypoventilation Ondine curse autonomic control, congenital failure of OMIM:209880 SCTID:230499002 congenital central hypoventilation syndrome MedDRA:10066131 congenital Ondine curse MONDO:0800026 Ondine curse, congenital https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome CCHS NCIT:C98889 primary alveolar hypoventilation Orphanet:661 A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients. icd11.foundation:1750742010 Ondine syndrome congenital central alveolar hypoventilation syndrome Ondine curse (formerly) UMLS:C5562075 congenital central hypoventilation central hypoventilation syndrome, congenital