DO_rare_slim has material basis in autosomal recessive disease primary ciliary dyskinesia 48 DOID:0070761 MIM:620032 MIM:620032 UMLS_CUI:C5774214 A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported. CILD48 disease_ontology UMLS_CUI:C5774214 primary ciliary dyskinesia autosomal recessive inheritance