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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:Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
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Accession:DOID:9001162 term browser browse the term
Synonyms:primary_id: MESH:C565306;   RDO:0013981
For additional species annotation, visit the Alliance of Genome Resources.


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Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:15141358 PMID:16648375 PMID:17576681 PMID:17990063 PMID:18414213 PMID:19006247 PMID:20683995 PMID:20921020 PMID:23352163 PMID:23757202 PMID:24033266 PMID:25502226 PMID:25741868 PMID:26133662 PMID:26395554 PMID:26443248 PMID:26467025 PMID:27175599 PMID:27353947 PMID:27829003 PMID:28041643 PMID:28492532 NCBI chr 7:74,118,834...74,722,341
Ensembl chr 7:75,852,610...75,858,812
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      skin disease 2741
        scalp dermatosis 25
          Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            eye degenerative disease 480
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 1
paths to the root