ZFIN Human Disease: congenital central hypoventilation syndrome

OBO ID: DOID:0060731

Term Name:	congenital central hypoventilation syndrome		Search Ontology:
Synonyms:	CCHS central congenital hypoventilation syndrome congenital central alveolar hypoventilation syndrome Ondine curse Ondine 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. (4)
References:	GARD:8535 ICD10CM:G47.3 MESH:C536209 OMIM:209880 ORDO:661
Ontology:	Human Disease ( DOID:0060731 )

Relationships

is a type of:	autonomic nervous system disease autosomal dominant disease physical disorder autonomic nervous system disease autosomal dominant disease physical disorder Show first 5 Terms

OTHER congenital central hypoventilation syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PHOX2B	phox2ba phox2bb	Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease	209880

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None