loading...| Preferred Name |
Congenital central hypoventilation syndrome |
| Synonyms |
Primary alveolar hypoventilation |
| ID |
http://purl.bioontology.org/ontology/MESH/C536209 |
| altLabel |
Primary alveolar hypoventilation Idiopathic congenital central alveolar hypoventilation Central Hypoventilation Syndrome, Congenital Autonomic Control, Congenital Failure of Ondine Curse, Congenital Congenital failure of autonomic control Ondine-Hirschsprung Disease Congenital Ondine curse Haddad Syndrome Cchs With Hirschsprung Disease |
| cui |
C1859049 C1275808 |
| Has mapping qualifier | |
| HM |
D020182 D007040/Q000151 |
| Inverse of RB |
0 |
| Mapped to | |
| MDA |
20100825 |
| MeSH Frequency |
140 |
| MMR |
20150818 |
| notation |
C536209 |
| prefLabel |
Congenital central hypoventilation syndrome |
| SC |
3 |
| Scope Statement |
An inherited disorder where patients present with abnormal respiration in the absence of neuromuscular, lung or cardiac diseases, or an identifiable brainstem lesion. Hypoventilation occurs during sleep but can occur during wakefulness in severe cases.Autonomic defects cause inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Germline mutations in the PHOX2B, ASCL2, EDN3, and RET genes have been identified. OMIM: 209880 |
| TERMUI |
T738613 T738612 T802403 T818662 T809283 T738611 T738615 T807626 T807484 T802402 T738616 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T019 T047 |