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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0060731
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_11465 _:vb50939270 _:vb50939271 n2:DOID_0050736 n2:DOID_0080015
rdfs:label
congenital central hypoventilation syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060731
obo:hasDbXref
MESH:C536209 GARD:8535 ICD10CM:G47.3 OMIM:209880 ORDO:661
obo:hasExactSynonym
CCHS Ondine syndrome congenital central alveolar hypoventilation syndrome Ondine curse central congenital hypoventilation syndrome
obo:hasOBONamespace
disease_ontology
n2: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.
Subject Item
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n7:doid.owl
Subject Item
_:vb50939271
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owl:someValuesFrom
n2:HP_0001197
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