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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 2
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Accession:DOID:0110415 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. (DO)
Synonyms:exact_synonym: RP2
 primary_id: MESH:C567523
 alt_id: OMIM:312600;   RDO:0015582
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP ribosylation factor like GTPase 3 ISS OMIM:312600 MouseDO NCBI chr 1:266,287,015...266,333,099
Ensembl chr 1:266,287,017...266,333,105
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by OMIM:312600
ClinVar Annotator: match by term: Retinitis pigmentosa 2
OMIM
ClinVar
PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10862093 PMID:10937588 PMID:10942419 PMID:11262649 PMID:11462235 PMID:11992260 PMID:12657579 PMID:15032968 PMID:16472755 PMID:18376416 PMID:20021257 PMID:20669900 PMID:21738648 PMID:22072390 PMID:22334370 PMID:23150612 PMID:24033266 PMID:24940031 PMID:25097241 PMID:25741868 PMID:28041643 PMID:28209709 PMID:28492532 PMID:30576320 PMID:30718709 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        fundus dystrophy 334
          retinitis pigmentosa 269
            retinitis pigmentosa 2 2
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            retinal disease 780
              retinal degeneration 465
                fundus dystrophy 334
                  retinitis pigmentosa 269
                    retinitis pigmentosa 2 2
paths to the root