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
|OMIM:209880 - CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : gdnf, ret, bdnf, phox2b, ascl1, edn3
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autonomic nervous system disease (is_a)