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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 71
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Accession:DOID:0110363 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: RP71
 primary_id: OMIM:616394
 alt_id: RDO:9000744
For additional species annotation, visit the Alliance of Genome Resources.


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retinitis pigmentosa 71 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by OMIM:616394 ClinVar
OMIM
PMID:25168386 NCBI chr 6:26,390,686...26,485,459 JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 71 ClinVar PMID:25168386 NCBI chr 6:26,485,126...26,486,695
Ensembl chr 6:26,485,126...26,486,695
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        fundus dystrophy 331
          retinitis pigmentosa 264
            retinitis pigmentosa 71 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            retinal disease 777
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    retinitis pigmentosa 71 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.