| Metadata | |
|---|---|
| ID | DOID:0110594 |
| Name | primary ciliary dyskinesia 1 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/10577904, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD1 [EXACT] primary ciliary dyskinesia 1 with or without situs inversus [EXACT] |
| Parent Relationships |