About: primary ciliary dyskinesia 28

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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
label	primary ciliary dyskinesia 28
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110607
database_cross_reference	ICD10CM:Q34.8 OMIM:615505
has_exact_synonym	CILD28 (en) primary ciliary dyskinesia 28 with or without situs inversus (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 outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943299

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