| Metadata | |
|---|---|
| ID | DOID:0111857 |
| Name | primary ciliary dyskinesia 45 |
| Definition | A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. https://www.ncbi.nlm.nih.gov/pubmed/31978331 |
| Xrefs | |
| Synonyms |
CILD45 [EXACT] primary ciliary dyskinesia 45 without situs inversus [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |