Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 72
go back to main search page
Accession:DOID:0110395 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. (DO)
Synonyms:exact_synonym: RP72
 primary_id: OMIM:616469
 alt_id: RDO:9001538
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
retinitis pigmentosa 72 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 72 OMIM
ClinVar
PMID:25882705 PMID:28492532 NCBI chr 3:80,549,102...80,555,186 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 72 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 72 1
paths to the root