Summary Literature (0)

DOID:0060731 - congenital central hypoventilation syndrome

Disease Ontology Definition:An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes.

Synonyms: CCHS, Ondine curse, Ondine syndrome, central congenital hypoventilation syndrome, congenital central alveolar hypoventilation syndrome,

Echinobase Genes : ret, ascl1


OMIM:

MIM:209880 - central hypoventilation syndrome, congenital; cchs

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee