| Metadata | |
|---|---|
| ID | DOID:0070766 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070766 Copy |
| Name | primary ciliary dyskinesia 53 |
| Definition | A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11. https://pubmed.ncbi.nlm.nih.gov/36727596/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5882728 exactMatch MIM:620642 |
| Subsets |
DO_rare_slim |
| Synonyms |
CILD53 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |