Term Name: | primary ciliary dyskinesia 27 |
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Synonyms: | CILD27, primary ciliary dyskinesia 27 without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0110611] ( DOID:0110611 ) |