| Metadata | |
|---|---|
| ID | DOID:0070758 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070758 Copy |
| Name | primary ciliary dyskinesia 46 |
| Definition | A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported. https://pubmed.ncbi.nlm.nih.gov/28543983/, https://www.ncbi.nlm.nih.gov/books/NBK1122/ |
| Xrefs | |
| SKOS |
exactMatch MIM:619436 exactMatch UMLS_CUI:C5543646 |
| Subsets |
DO_rare_slim |
| Synonyms |
CILD46 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |