| Metadata | |
|---|---|
| ID | DOID:0110607 |
| Name | primary ciliary dyskinesia 28 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. https://www.ncbi.nlm.nih.gov/pubmed/24055112, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD28 [EXACT] primary ciliary dyskinesia 28 with or without situs inversus [EXACT] |
| Parent Relationships |