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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 35
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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


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retinitis pigmentosa 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 35		 OMIM
CTD
ClinVar		 PMID:16199541 PMID:22956603 PMID:23360997 PMID:24033266 PMID:25307848 More... 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 18969
    sensory system disease 6961
      eye disease 3492
        Hereditary Eye Diseases 1101
          retinitis pigmentosa 601
            retinitis pigmentosa 35 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              eye degenerative disease 855
                retinal degeneration 853
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 35 1
paths to the root