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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:retinitis pigmentosa 75
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Accession:DOID:0110361 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: RP75
 primary_id: OMIM:617023


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retinitis pigmentosa 75 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGBL5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 75 OMIM
ClinVar		 PMID:25741868 PMID:26355662 PMID:26720455 PMID:28492532 NCBI chr2A:27,050,510...27,069,661
Ensembl chr2A:27,139,729...27,158,538 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6633
      eye disease 3381
        fundus dystrophy 690
          retinitis pigmentosa 594
            retinitis pigmentosa 75 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15264
      nervous system disease 13298
        Neurologic Manifestations 9647
          sensory system disease 6633
            eye disease 3381
              eye degenerative disease 823
                retinal degeneration 821
                  fundus dystrophy 690
                    retinitis pigmentosa 594
                      retinitis pigmentosa 75 1
paths to the root