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Namespace Prefixes

Prefix	IRI
n7	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_0110621

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_9562

rdfs:label

primary ciliary dyskinesia 17

wdrs:describedby

n7:doid.owl

obo:id

DOID:0110621

obo:hasDbXref

ICD10CM:Q34.8 OMIM:614679

obo:hasExactSynonym

primary ciliary dyskinesia 17 with or without situs inversus CILD17

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.