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DO Term : X-linked retinitis pigmentosa and sinorespiratory infections [DOID:0112124] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • ORDO:247522,
  • OMIM:300455,
  • primary ciliary dyskinesia-retinitis pigmentosa syndrome,
  • 300455
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Disease

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Ontology

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