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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:X-linked retinitis pigmentosa and sinorespiratory infections
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Accession:DOID:0112124 term browser browse the term
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 RPGR on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness;   primary ciliary dyskinesia-retinitis pigmentosa syndrome
 narrow_synonym: X-linked retinitis pigmentosa and sinorespiratory infections with deafness
 primary_id: MESH:C567595
 alt_id: DOID:9005415;   OMIM:300455
 xref: ORDO:247522
For additional species annotation, visit the Alliance of Genome Resources.



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X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness
OMIM
ClinVar
PMID:1733835 PMID:10094550 PMID:12920075 PMID:14627685 PMID:16055928 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      X-linked retinitis pigmentosa and sinorespiratory infections 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          Otorhinolaryngologic Diseases 1349
            auditory system disease 913
              Hearing Disorders 741
                Hearing Loss 737
                  Deafness 386
                    X-linked retinitis pigmentosa and sinorespiratory infections 1
paths to the root