About: primary ciliary dyskinesia 43

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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 dominant disease primary ciliary dyskinesia nodeID://b50945608
label	primary ciliary dyskinesia 43
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111856
database_cross_reference	OMIM:618699
has_exact_synonym	primary ciliary dyskinesia 43 with or without situs inversus CILD43
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945609

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