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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 the RPGR gene on chromosome Xp11.4. (DO)
Synonyms:exact_synonym: RPSRDF;   X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness;   primary ciliary dyskinesia-retinitis pigmentosa syndrome
 narrow_synonym: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS;   X-linked retinitis pigmentosa and sinorespiratory infections with deafness
 primary_id: MESH:C567595
 alt_id: DOID:9005415;   MIM:300455
 xref: ORDO:247522


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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 term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    syndrome 11406
      X-linked retinitis pigmentosa and sinorespiratory infections 1
Path 2
Term Annotations click to browse term
  disease 19143
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              eye degenerative disease 932
                retinal degeneration 930
                  fundus dystrophy 786
                    retinitis pigmentosa 607
                      X-linked retinitis pigmentosa and sinorespiratory infections 1
paths to the root