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Namespace Prefixes

PrefixIRI
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Statements

Subject Item
n2:DOID_0110604
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9562
rdfs:label
primary ciliary dyskinesia 18
wdrs:describedby
n4:doid.owl
obo:id
DOID:0110604
obo:hasDbXref
OMIM:614874 ICD10CM:Q34.8
obo:hasExactSynonym
primary ciliary dyskinesia 18 with or without situs inversus CILD18
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.