Term Name: | primary ciliary dyskinesia 33 |
---|---|
Synonyms: | CILD33, primary ciliary dyskinesia 33 without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. |
Ontology: | Human Disease [DOID:0110619] ( DOID:0110619 ) |