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Metadata
ID	DOID:0111852
Name	primary ciliary dyskinesia 38
Definition	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 the CFAP300 gene on chromosome 11q22.1. https://www.ncbi.nlm.nih.gov/pubmed/29727692, https://www.ncbi.nlm.nih.gov/pubmed/29727693
Xrefs	OMIM:618063
Synonyms	CILD38 [EXACT] primary ciliary dyskinesia 38 with or without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia is_a autosomal recessive disease