loading...| Preferred Name |
congenital central hypoventilation syndrome |
| Synonyms |
central congenital hypoventilation syndrome |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0060731 |
| database_cross_reference |
OMIM:209880 ICD10CM:G47.3 MESH:C536209 ORDO:661 GARD:8535 |
| 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. |
| disease has basis in | |
| has exact synonym |
central congenital hypoventilation syndrome Ondine curse Ondine syndrome CCHS congenital central alveolar hypoventilation syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0060731 |
| in_subset | |
| label |
congenital central hypoventilation syndrome |
| notation |
DOID:0060731 |
| prefLabel |
congenital central hypoventilation syndrome |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0050736 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C536209 | Medical Subject Headings | LOOM |