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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 62
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Accession:DOID:0110380 term browser browse the term
Definition:A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. (DO)
Synonyms:exact_synonym: RP62
 primary_id: OMIM:614181


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retinitis pigmentosa 62 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak male germ cell-associated kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 62		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21148103 PMID:21825139 More... NCBI chr17:23,683,753...23,731,125
Ensembl chr17:23,693,878...23,730,001 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        fundus dystrophy 699
          retinitis pigmentosa 600
            retinitis pigmentosa 62 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              eye degenerative disease 848
                retinal degeneration 846
                  fundus dystrophy 699
                    retinitis pigmentosa 600
                      retinitis pigmentosa 62 1
paths to the root