Term Name: | X-linked retinitis pigmentosa and sinorespiratory infections |
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Synonyms: | primary ciliary dyskinesia-retinitis pigmentosa syndrome |
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. |
Ontology: | Human Disease [DOID:0112124] ( DOID:0112124 ) |