| Metadata | |
|---|---|
| ID | DOID:0112124 |
| Name | X-linked retinitis pigmentosa and sinorespiratory infections |
| Definition | A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. https://pubmed.ncbi.nlm.nih.gov/10094550/, https://pubmed.ncbi.nlm.nih.gov/1733835/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
primary ciliary dyskinesia-retinitis pigmentosa syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |