About: primary ciliary dyskinesia 17

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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 17
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110621
database_cross_reference	ICD10CM:Q34.8 OMIM:614679
has_exact_synonym	CILD17 (en) primary ciliary dyskinesia 17 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 inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943313

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