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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 38
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Accession:DOID:0110367 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. (DO)
Synonyms:exact_synonym: ROD-CONE DYSTROPHY, CHILDHOOD-ONSET;   RP38;   progressive retinal atrophy, MERTK-related
 primary_id: OMIM:613862
 alt_id: OMIA:001932;   RDO:9000496
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by OMIM:613862
ClinVar Annotator: match by term: Retinitis pigmentosa 38
OMIM
ClinVar
PMID:11062461 PMID:11592982 PMID:11727200 PMID:15111602 PMID:16714263 PMID:17301963 PMID:19956407 PMID:20300561 PMID:21677792 PMID:22180149 PMID:22939401 PMID:24265693 PMID:25097241 PMID:25326637 PMID:25741868 PMID:26263531 PMID:26355662 PMID:26872967 PMID:28492532 PMID:29659094 PMID:30718709 NCBI chr 3:121,235,230...121,340,932
Ensembl chr 3:121,235,119...121,342,444
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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 38 1
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 38 1
paths to the root