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central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
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Accession:EFO:MONDO:0800026 term browser browse the term
Definition: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.
Synonyms:exact_synonym: CCHS;   DOID:0060731;   NCIT:C98889;   Ondine curse;   Ondine syndrome;   Orphanet:661;   congenital Ondine curse;   congenital central alveolar hypoventilation syndrome;   congenital central hypoventilation;   http://identifiers.org/medgen/1794285;   http://identifiers.org/snomedct/230499002;   http://linkedlifedata.com/resource/umls/id/C5562075;   http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1750742010;   https://omim.org/entry/209880
 synonym: http://identifiers.org/meddra/10007982;   http://identifiers.org/meddra/10066131
 related_synonym: CCHS with Hirschsprung disease;   Haddad syndrome;   Ondine curse (formerly);   Ondine's curse (formerly);   Ondine-Hirschsprung disease;   central hypoventilation syndrome, congenital;   congenital failure of autonomic control;   idiopathic congenital central alveolar hypoventilation;   primary alveolar hypoventilation
 alt_id: MONDO:0800026
 xref: DOID:0060731;   GARD:8535;   ICD10CM:G47.3;   MEDGEN:1794285;   MIM:209880;   MedDRA:10007982;   MedDRA:10066131;   NCI:C98889;   ORDO:661;   SCTID:230499002;   UMLS:C5562075;   icd11.foundation:1750742010
 see_also: https://rarediseases.info.nih.gov/diseases/8535/congenital-central-hypoventilation-syndrome" xsd:string {source="GARD:0008535

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