| Metadata | |
|---|---|
| ID | DOID:0110617 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110617 Copy |
| Name | primary ciliary dyskinesia 5 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. https://www.ncbi.nlm.nih.gov/pubmed/23022101 |
| Xrefs | |
| Synonyms |
CILD5 [EXACT] primary ciliary dyskinesia 5 without situs inversus [EXACT] |
| Parent Relationships |