Term Name: | primary ciliary dyskinesia 9 |
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Synonyms: | CILD9, primary ciliary dyskinesia 9 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. |
Ontology: | Human Disease [DOID:0110622] ( DOID:0110622 ) |