| Metadata | |
|---|---|
| ID | DOID:0110596 |
| Name | primary ciliary dyskinesia 21 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. https://www.ncbi.nlm.nih.gov/pubmed/23354437, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD21 [EXACT] primary ciliary dyskinesia 21 without situs inversus [EXACT] |
| Parent Relationships |