Version: 8.0.0
Date: Tue Jan 28 2025
congenital central hypoventilation syndrome
DOID:0060731
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

congenital central hypoventilation 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.
Synonyms
  • CCHS
  • central congenital hypoventilation syndrome
Cross References
Parent Terms
Child Terms
None
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