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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 73
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Accession:DOID:0110389 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. (DO)
Synonyms:exact_synonym: RP73
 primary_id: OMIM:616544


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retinitis pigmentosa 73 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 73		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17576681 More... NCBI chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      eye disease 3460
        fundus dystrophy 722
          retinitis pigmentosa 623
            retinitis pigmentosa 73 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            eye disease 3460
              eye degenerative disease 860
                retinal degeneration 858
                  fundus dystrophy 722
                    retinitis pigmentosa 623
                      retinitis pigmentosa 73 1
paths to the root