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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 30
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Accession:DOID:0110406 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: RP30
 narrow_synonym: MACULAR DEGENERATION
 primary_id: MESH:C564310;   RDO:0013319
 alt_id: OMIM:607921
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Retinitis pigmentosa 30 OMIM
ClinVar
PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 PMID:17251446 PMID:18450588 PMID:25741868 PMID:28492532 NCBI chr10:109,528,307...109,540,675
Ensembl chr10:109,533,487...109,540,026
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        fundus dystrophy 344
          retinitis pigmentosa 279
            retinitis pigmentosa 30 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        sensory system disease 5332
          eye disease 2643
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    retinitis pigmentosa 30 1
paths to the root