About: primary ciliary dyskinesia 38

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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 recessive disease primary ciliary dyskinesia nodeID://b50945600
label	primary ciliary dyskinesia 38
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0111852
database_cross_reference	OMIM:618063
has_exact_synonym	primary ciliary dyskinesia 38 with or without situs inversus CILD38
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50945601

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