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Namespace Prefixes

PrefixIRI
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owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0110603
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9562
rdfs:label
primary ciliary dyskinesia 32
wdrs:describedby
n6:doid.owl
obo:id
DOID:0110603
obo:hasDbXref
OMIM:616481 ICD10CM:Q34.8
obo:hasExactSynonym
CILD32 primary ciliary dyskinesia 32 without situs inversus
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.