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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:Posterior Column Ataxia with Retinitis Pigmentosa
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Accession:DOID:9008679 term browser browse the term
Synonyms:exact_synonym: AXPC1;   PCARP
 primary_id: MESH:C536343
 alt_id: OMIM:609033


show annotations for term's descendants           Sort by:
Posterior Column Ataxia with Retinitis Pigmentosa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLVCR1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa OMIM
ClinVar		 PMID:9409377 PMID:9536098 PMID:9855554 PMID:17576681 PMID:21070897 More... NCBI chr 1:188,425,697...188,466,721
Ensembl chr 1:193,284,158...193,320,554 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 ISO ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa ClinVar PMID:20206334 PMID:20518025 PMID:25741868 PMID:28492532 NCBI chr14:56,132,370...56,209,882 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        fundus dystrophy 690
          retinitis pigmentosa 595
            Posterior Column Ataxia with Retinitis Pigmentosa 2
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              retinal disease 1175
                retinal degeneration 821
                  fundus dystrophy 690
                    retinitis pigmentosa 595
                      Posterior Column Ataxia with Retinitis Pigmentosa 2
paths to the root