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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
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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:9536098 PMID:16960811 PMID:17033958 PMID:17576681 PMID:19479962 More... NCBI chr16:66,105,233...66,137,444
Ensembl chr16:66,105,181...66,136,138
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      eye disease 2937
        fundus dystrophy 390
          retinitis pigmentosa 314
            retinitis pigmentosa 73 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        sensory system disease 6409
          eye disease 2937
            retinal disease 872
              retinal degeneration 531
                fundus dystrophy 390
                  retinitis pigmentosa 314
                    retinitis pigmentosa 73 1
paths to the root