congenital central hypoventilation syndrome

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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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/12640453 url:https://www.ncbi.nlm.nih.gov/pubmed/11840487 http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/8135282 url:https://www.ncbi.nlm.nih.gov/pubmed/8696331 ]

This is just here as a test because I lose it

Term information

database cross reference
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.

has exact synonym

congenital central alveolar hypoventilation syndrome

CCHS

Ondine syndrome

Ondine curse

central congenital hypoventilation syndrome

has obo namespace

disease_ontology

id

DOID:0060731