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DOID:0112124 - X-linked retinitis pigmentosa and sinorespiratory infections
Disease Ontology 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.
Synonyms: primary ciliary dyskinesia-retinitis pigmentosa syndrome,
Echinobase Genes
:
rpgr
| MIM:300455 - retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked disease (is_a),
syndrome (is_a)