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ZIRC
OBO ID: DOID:0060731
Term Name: congenital central hypoventilation syndrome Search Ontology:
Synonyms:
  • CCHS
  • central congenital hypoventilation syndrome
  • congenital central alveolar hypoventilation syndrome
  • Ondine curse
  • Ondine syndrome
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. (4)
References:
Ontology: Human Disease   (DOID:0060731)
OTHER congenital central hypoventilation syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ASCL1 Haddad syndrome 209880
Central hypoventilation syndrome, congenital 209880
EDN3 Central hypoventilation syndrome, congenital 209880
GDNF Central hypoventilation syndrome 209880
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
RET Central hypoventilation syndrome, congenital 209880
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None