loading...| Preferred Name |
Congenital central hypoventilation syndrome |
|
| Synonyms |
Autonomic Control, Congenital Failure of |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536209 |
|
| altLabel |
Autonomic Control, Congenital Failure of Ondine Curse, Congenital Haddad Syndrome Idiopathic congenital central alveolar hypoventilation Ondine-Hirschsprung Disease Congenital failure of autonomic control Congenital Ondine curse Cchs With Hirschsprung Disease Primary alveolar hypoventilation Central Hypoventilation Syndrome, Congenital |
|
| cui |
C1275808 C1859049 |
|
| Has mapping qualifier | ||
| HM |
D007040/Q000151 D020182 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
221 |
|
| 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 |
T738615 T738612 T802402 T818662 T738616 T807626 T738611 T809283 T738613 T802403 T807484 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 T019 |