| Metadata | |
|---|---|
| ID | DOID:0110611 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110611 Copy |
| Name | primary ciliary dyskinesia 27 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/24094744 |
| Xrefs | |
| Synonyms |
CILD27 [EXACT] primary ciliary dyskinesia 27 without situs inversus [EXACT] |
| Parent Relationships |