Term Name: | primary ciliary dyskinesia 5 |
---|---|
Synonyms: | CILD5, primary ciliary dyskinesia 5 without situs inversus |
Definition: | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. |
Ontology: | Human Disease [DOID:0110617] ( DOID:0110617 ) |