Term Name: | primary ciliary dyskinesia 41 |
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Synonyms: | CILD41 |
Definition: | A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. |
Ontology: | Human Disease [DOID:0111858] ( DOID:0111858 ) |