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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 51
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Accession:DOID:0110398 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. (DO)
Synonyms:exact_synonym: RP51
 broad_synonym: TTC8-RELATED CONDITION
 xref: MIM:613464;   MONDO:0013274


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retinitis pigmentosa 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTC8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 51 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 More... NCBI chr14:69,446,355...69,502,351
Ensembl chr14:88,802,812...88,857,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15805
    sensory system disease 7020
      eye disease 3597
        Hereditary Eye Diseases 1103
          retinitis pigmentosa 596
            retinitis pigmentosa 51 1
Path 2
Term Annotations click to browse term
  disease 15805
    Pathological Conditions, Signs and Symptoms 12318
      Signs and Symptoms 10333
        Neurologic Manifestations 10031
          sensory system disease 7020
            eye disease 3597
              retinal disease 1357
                retinal degeneration 830
                  fundus dystrophy 694
                    retinitis pigmentosa 596
                      retinitis pigmentosa 51 1
paths to the root