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Metadata
ID	DOID:0111853
Name	primary ciliary dyskinesia 40
Definition	A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/30471717, https://www.ncbi.nlm.nih.gov/pubmed/30471718
Xrefs	OMIM:618300
Synonyms	CILD40 [EXACT] primary ciliary dyskinesia 40 with or without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia is_a autosomal recessive disease