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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, central congenital hypoventilation syndrome, congenital central alveolar hypoventilation syndrome, Ondine curse, Ondine syndrome
Xenbase Genes
:
gdnf,
ret,
bdnf,
myo1h,
phox2b,
ascl1,
edn3
| MONDO:0008852 - obsolete congenital central hypoventilation syndrome |
| MIM:209880 - CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1; CCHS1 |
Other Model Organisms: Alliance, 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)