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Metadata
ID	DOID:0110624
Name	primary ciliary dyskinesia 30
Definition	A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. https://www.ncbi.nlm.nih.gov/pubmed/25192045, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs	ICD10CM:Q34.8 OMIM:616037
Synonyms	CILD30 [EXACT] primary ciliary dyskinesia 30 without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia