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Namespace Prefixes

PrefixIRI
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n2http://purl.obolibrary.org/obo/
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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_0110625
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9562
rdfs:label
primary ciliary dyskinesia 20
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110625
obo:hasDbXref
ICD10CM:Q34.8 OMIM:615067
obo:hasExactSynonym
primary ciliary dyskinesia 20 with or without situs inversus CILD20
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.