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Disease Ontology Browser
primary ciliary dyskinesia 27 (DOID:0110611)
Alliance: disease page
Synonyms: CILD27; primary ciliary dyskinesia 27 without situs inversus
Alt IDs: OMIM:615504, ICD10CM:Q34.8
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.

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The Jackson Laboratory