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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, with or without Deafness
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Accession:DOID:9005415 term browser browse the term
Synonyms:narrow_synonym: RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH DEAFNESS
 primary_id: MESH:C567595
 alt_id: OMIM:300455;   RDO:0015637
For additional species annotation, visit the Alliance of Genome Resources.


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X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness 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:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      respiratory system disease 2745
        Respiratory Tract Infections 480
          X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              Hearing Disorders 614
                Hearing Loss 609
                  Deafness 270
                    X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.