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Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_0110598

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_9562

rdfs:label

primary ciliary dyskinesia 14

wdrs:describedby

n6:doid.owl

obo:id

DOID:0110598

obo:hasDbXref

ICD10CM:Q34.8 OMIM:613807

obo:hasExactSynonym

CILD14 primary ciliary dyskinesia 14 with or without situs inversus

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.