Term Name: | primary ciliary dyskinesia 19 |
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Synonyms: | CILD19, primary ciliary dyskinesia 19 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. |
Ontology: | Human Disease [DOID:0110608] ( DOID:0110608 ) |