| Metadata | |
|---|---|
| ID | DOID:0060731 |
| Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/8696331, https://www.ncbi.nlm.nih.gov/pubmed/8135282, https://www.ncbi.nlm.nih.gov/pubmed/11840487, https://www.ncbi.nlm.nih.gov/pubmed/12640453 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CCHS [EXACT] central congenital hypoventilation syndrome [EXACT] congenital central alveolar hypoventilation syndrome [EXACT] Ondine curse [EXACT] Ondine syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a autonomic nervous system disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |