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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
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Statements

Subject Item
n2:DOID_0110624
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9562
rdfs:label
primary ciliary dyskinesia 30
wdrs:describedby
n6:doid.owl
obo:id
DOID:0110624
obo:hasDbXref
OMIM:616037 ICD10CM:Q34.8
obo:hasExactSynonym
CILD30 primary ciliary dyskinesia 30 without situs inversus
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.