| Metadata | |
|---|---|
| ID | DOID:0110600 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110600 Copy |
| Name | primary ciliary dyskinesia 29 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. https://www.ncbi.nlm.nih.gov/pubmed/24747639, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD29 [EXACT] primary ciliary dyskinesia 29 without situs inversus [EXACT] |
| Parent Relationships |