Search Ontology:
Human Disease

congenital central hypoventilation syndrome

Term ID
DOID:0060731
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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models