| Metadata | |
|---|---|
| ID | DOID:0070767 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070767 Copy |
| Name | primary ciliary dyskinesia 54 |
| Definition | A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear. https://pubmed.ncbi.nlm.nih.gov/37725231/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012704 exactMatch MIM:621125 |
| Subsets |
DO_rare_slim |
| Synonyms |
CILD54 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |