| Metadata | |
|---|---|
| ID | DOID:0110599 |
| Name | primary ciliary dyskinesia 3 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. https://www.ncbi.nlm.nih.gov/pubmed/11788826, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD3 [EXACT] primary ciliary dyskinesia 3 with or without situs inversus [EXACT] |
| Parent Relationships |