About: primary ciliary dyskinesia 2

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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	primary ciliary dyskinesia nodeID://b50943318
label	primary ciliary dyskinesia 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110626
database_cross_reference	ICD10CM:Q34.8 OMIM:606763
has_exact_synonym	primary ciliary dyskinesia 2 with or without situs inversus (en) CILD2 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943319

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