Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/B871507c98e562338b49b7b1584927ca6> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- B871507c98e562338b49b7b1584927ca6 hasDbXref "Orphanet:661" @default.
- B871507c98e562338b49b7b1584927ca6 type Axiom @default.
- B871507c98e562338b49b7b1584927ca6 annotatedProperty IAO_0000115 @default.
- B871507c98e562338b49b7b1584927ca6 annotatedSource MONDO_0800026 @default.
- B871507c98e562338b49b7b1584927ca6 annotatedTarget "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." @default.