| Metadata | |
|---|---|
| ID | DOID:0110598 |
| Name | primary ciliary dyskinesia 14 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. https://www.ncbi.nlm.nih.gov/pubmed/21131972, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD14 [EXACT] primary ciliary dyskinesia 14 with or without situs inversus [EXACT] |
| Parent Relationships |