About: primary ciliary dyskinesia 23

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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 23
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110609
database_cross_reference	ICD10CM:Q34.8 OMIM:615451
has_exact_synonym	CILD23 (en) primary ciliary dyskinesia 23 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 dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943301

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