congenital central hypoventilation syndrome
GPTKB entity
Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease autonomic nervous system disorder |
| gptkbp:affects |
respiratory control
|
| gptkbp:alsoKnownAs |
Ondine's curse
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1970
|
| gptkbp:frequency |
very rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital central hypoventilation syndrome
|
| gptkbp:ICD-10_code |
G47.34
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D020181
|
| gptkbp:mutationAssociatedWith |
PHOX2B gene
|
| gptkbp:namedAfter |
Ondine, a mythological figure
|
| gptkbp:OMIM |
209880
|
| gptkbp:onset |
at birth
|
| gptkbp:symptom |
autonomic dysfunction
hypoventilation during sleep reduced sensitivity to carbon dioxide |
| gptkbp:treatment |
mechanical ventilation
diaphragm pacing |
| gptkbp:bfsParent |
gptkb:PHOX2B
gptkb:respiratory_CPG |
| gptkbp:bfsLayer |
7
|