Term Name:	primary ciliary dyskinesia 40
Synonyms:	CILD40, primary ciliary dyskinesia 40 with or without situs inversus
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.
Ontology:	Human Disease [DOID:0111853]   ( DOID:0111853 )