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/1733835/, https://pubmed.ncbi.nlm.nih.gov/10094550/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
primary ciliary dyskinesia-retinitis pigmentosa syndrome [EXACT] |
Parent Relationships |
is_a X-linked monogenic disease is_a syndrome |
Subclass Logical Relationships |
has material basis in some X-linked inheritance |