DO_rare_slim has material basis in disease has basis in autosomal dominant disease congenital central hypoventilation syndrome ORDO:661 GARD:8535 disease_ontology MIM:209880 ICD10CM:G47.3 DOID:0060731 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. MESH:C536209 CCHS Ondine curse Ondine syndrome central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome physical disorder autonomic nervous system disease autosomal dominant inheritance Abnormality of prenatal development or birth