| Metadata | |
|---|---|
| ID | DOID:0070765 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070765 Copy |
| Name | primary ciliary dyskinesia 52 |
| Definition | A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that has_material_basis_in homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36. https://pubmed.ncbi.nlm.nih.gov/36074124/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5882714 exactMatch MIM:620570 narrowMatch UMLS_CUI:C5882778 |
| Subsets |
DO_rare_slim |
| Synonyms |
CILD52 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |