congenital central hypoventilation syndrome

Summary

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,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gdnf, ret, bdnf, myo1h, phox2b, ascl1, edn3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008852 - obsolete congenital central hypoventilation syndrome

MONDO:0008852 - obsolete congenital central hypoventilation syndrome

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

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

Parent(s): autonomic nervous system disease (is_a), autosomal dominant disease (is_a), physical disorder (is_a)