| Metadata | |
|---|---|
| ID | DOID:0110622 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110622 Copy |
| Name | primary ciliary dyskinesia 9 |
| Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/18950741, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD9 [EXACT] primary ciliary dyskinesia 9 with or without situs inversus [EXACT] |
| Parent Relationships |