Term Name: | primary ciliary dyskinesia 28 |
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Synonyms: | CILD28, primary ciliary dyskinesia 28 with or without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. |
Ontology: | Human Disease [DOID:0110607] ( DOID:0110607 ) |