OBO ID: DOID:0060731 |
Term Name: | congenital central hypoventilation syndrome | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.