| Metadata | |
|---|---|
| ID | DOID:0111851 |
| Name | primary ciliary dyskinesia 44 |
| Definition | A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. https://www.ncbi.nlm.nih.gov/pubmed/31959991 |
| Xrefs | |
| Synonyms |
CILD44 [EXACT] primary ciliary dyskinesia 44 without situs inversus [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |