X-linked retinitis pigmentosa and sinorespiratory infections

Term ID

DOID:0112124

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. (2)

References

• OMIM:300455
• ORDO:247522

Ontology

Human Disease   ( DOID:0112124 )