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Metadata
ID	DOID:0110604
Name	primary ciliary dyskinesia 18
Definition	A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. https://www.ncbi.nlm.nih.gov/pubmed/23040496, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs	ICD10CM:Q34.8 OMIM:614874
Synonyms	CILD18 [EXACT] primary ciliary dyskinesia 18 with or without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia