| Metadata | |
|---|---|
| ID | DOID:0110610 |
| Name | primary ciliary dyskinesia 34 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/27486783 |
| Xrefs | |
| Synonyms |
CILD34 [EXACT] primary ciliary dyskinesia 34 without situs inversus [EXACT] |
| Parent Relationships |