| Metadata | |
|---|---|
| ID | DOID:0061226 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061226 Copy |
| Name | primary ciliary dyskinesia 55 |
| Definition | A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14. https://pubmed.ncbi.nlm.nih.gov/40272718/, https://pubmed.ncbi.nlm.nih.gov/31636325/ |
| Xrefs | |
| Synonyms |
Azoospermia-sinopulmonary infections syndrome [EXACT] Sinusitis-infertility syndrome [EXACT] young syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |