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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 28
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Accession:DOID:0110365 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. (DO)
Synonyms:exact_synonym: RETINITIS PIGMENTOSA TYPE 28;   RP28
 primary_id: OMIM:606068
 alt_id: RDO:0016052
For additional species annotation, visit the Alliance of Genome Resources.



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retinitis pigmentosa 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 28 OMIM
ClinVar
PMID:9536098 PMID:10507729 PMID:16199547 PMID:17576681 PMID:20705278 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18162
    sensory system disease 6412
      eye disease 2937
        fundus dystrophy 390
          retinitis pigmentosa 314
            retinitis pigmentosa 28 1
Path 2
Term Annotations click to browse term
  disease 18162
    disease of anatomical entity 17537
      nervous system disease 13196
        sensory system disease 6412
          eye disease 2937
            retinal disease 872
              retinal degeneration 531
                fundus dystrophy 390
                  retinitis pigmentosa 314
                    retinitis pigmentosa 28 1
paths to the root