# congenital central hypoventilation syndrome

> Human disease

**Wikidata**: [Q979129](https://www.wikidata.org/wiki/Q979129)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Central_hypoventilation_syndrome)  
**Source**: https://4ort.xyz/entity/congenital-central-hypoventilation-syndrome


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000109132/Orphanet_661)
5. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. UMLS 2023
8. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)