| Metadata | |
|---|---|
| ID | DOID:0110618 |
| PURL | http://purl.obolibrary.org/obo/DOID_0110618 Copy |
| Name | primary ciliary dyskinesia 13 |
| Definition | A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. https://www.ncbi.nlm.nih.gov/pubmed/19944400, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
| Xrefs | |
| Synonyms |
CILD13 [EXACT] primary ciliary dyskinesia 13 with or without situs inversus [EXACT] |
| Parent Relationships |