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congenital central hypoventilation syndrome
Summary
- Synonym
-
- CCHS
- Ondine curse
- Ondine syndrome
- central congenital hypoventilation syndrome
- congenital central alveolar 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.
- Super Class
- autonomic nervous system disease autosomal dominant disease physical disorder
External Links
- Disease Ontology
- DOID:0060731
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
