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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 AND ERYTHROCYTIC MICROCYTOSIS
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Accession:DOID:9002040 term browser browse the term
Synonyms:exact_synonym: RPEM
 primary_id: OMIM:616959;   RDO:9001201
For additional species annotation, visit the Alliance of Genome Resources.


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RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis
ClinVar
OMIM
PMID:25193871 PMID:25741868 PMID:26494905 PMID:28492532 PMID:29358286 NCBI chr 4:138,855,497...138,869,217
Ensembl chr 4:138,855,641...138,869,217
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        fundus dystrophy 344
          retinitis pigmentosa 279
            RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            retinal disease 805
              retinal degeneration 478
                fundus dystrophy 344
                  retinitis pigmentosa 279
                    RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS 1
paths to the root