Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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 35
go back to main search page
Accession:DOID:0110357 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: RP35
 primary_id: MESH:C565206
 alt_id: OMIM:610282;   RDO:0013915
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
retinitis pigmentosa 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 35 OMIM
ClinVar
PMID:16199541 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:173,896,432...173,917,903
Ensembl chr 2:173,896,439...173,914,442
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    sensory system disease 6575
      eye disease 2996
        Hereditary Eye Diseases 783
          retinitis pigmentosa 315
            retinitis pigmentosa 35 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              eye degenerative disease 541
                retinal degeneration 539
                  fundus dystrophy 393
                    retinitis pigmentosa 315
                      retinitis pigmentosa 35 1
paths to the root