congenital hypoventilation syndrome
GPTKB entity
Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease respiratory disorder |
| gptkbp:affects |
children
infants |
| gptkbp:alsoKnownAs |
gptkb:CCHS
Ondine's curse |
| gptkbp:associatedWith |
gptkb:Hirschsprung_disease
neural crest tumors |
| gptkbp:complication |
gptkb:cor_pulmonale
pulmonary hypertension |
| gptkbp:diagnosedBy |
genetic testing
polysomnography |
| gptkbp:firstDescribed |
1970
|
| gptkbp:hasOrphanetID |
ORPHA661
|
| https://www.w3.org/2000/01/rdf-schema#label |
congenital hypoventilation syndrome
|
| gptkbp:ICD-10_code |
G47.34
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
PHOX2B gene
|
| gptkbp:namedAfter |
Ondine, a mythological figure
|
| gptkbp:OMIM |
209880
|
| gptkbp:onset |
neonatal period
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
respiratory failure
cyanosis hypoxemia hypercapnia hypoventilation during sleep |
| gptkbp:treatment |
mechanical ventilation
diaphragm pacing |
| gptkbp:bfsParent |
gptkb:NTF3
|
| gptkbp:bfsLayer |
8
|