About: congenital central hypoventilation syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease physical disorder autonomic nervous system disease nodeID://b50939270 nodeID://b50939271
label	congenital central hypoventilation syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060731
database_cross_reference	GARD:8535 ICD10CM:G47.3 MESH:C536209 OMIM:209880 ORDO:661
has_exact_synonym	congenital central alveolar hypoventilation syndrome (en) CCHS (en) Ondine curse (en) Ondine syndrome (en) central congenital hypoventilation syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939272

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