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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
 alt_id: RDO:9001178
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Retinitis pigmentosa 73 OMIM
ClinVar
PMID:16960811 PMID:17033958 PMID:19479962 PMID:20583299 PMID:25741868 PMID:25859010 PMID:28041643 PMID:28492532 PMID:31228227 NCBI chr16:70,876,557...70,909,443 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      eye disease 2582
        fundus dystrophy 332
          retinitis pigmentosa 267
            retinitis pigmentosa 73 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          eye disease 2582
            retinal disease 776
              retinal degeneration 465
                fundus dystrophy 332
                  retinitis pigmentosa 267
                    retinitis pigmentosa 73 1
paths to the root