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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 10
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Accession:DOID:0110388 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: RP10
 broad_synonym: IMPDH1-RELATED CONDITION
 primary_id: MESH:C566715
 alt_id: OMIM:180105;   RDO:0014990


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retinitis pigmentosa 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 10		 OMIM
CTD
ClinVar		 PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 PMID:16384941 More... NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        fundus dystrophy 703
          retinitis pigmentosa 601
            retinitis pigmentosa 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              eye degenerative disease 855
                retinal degeneration 853
                  fundus dystrophy 703
                    retinitis pigmentosa 601
                      retinitis pigmentosa 10 1
paths to the root