Term Name: | primary ciliary dyskinesia 29 |
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Synonyms: | CILD29, primary ciliary dyskinesia 29 without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. |
Ontology: | Human Disease [DOID:0110600] ( DOID:0110600 ) |