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Metadata
ID	DOID:0111856
Name	primary ciliary dyskinesia 43
Definition	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. https://www.ncbi.nlm.nih.gov/pubmed/31630787
Xrefs	OMIM:618699
Synonyms	CILD43 [EXACT] primary ciliary dyskinesia 43 with or without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia is_a autosomal dominant disease