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Metadata
ID	DOID:0110625
Name	primary ciliary dyskinesia 20
Definition	A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/23261303, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs	ICD10CM:Q34.8 OMIM:615067
Synonyms	CILD20 [EXACT] primary ciliary dyskinesia 20 with or without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia