About: primary ciliary dyskinesia 45

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive disease primary ciliary dyskinesia nodeID://b50945610
label	primary ciliary dyskinesia 45
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111857
database_cross_reference	OMIM:618801
has_exact_synonym	CILD45 primary ciliary dyskinesia 45 without situs inversus
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945611

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