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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;   RDO:0001890
 alt_id: OMIM:609033
For additional species annotation, visit the Alliance of Genome Resources.


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 heme transporter 1 ISO ClinVar Annotator: match by OMIM:609033
ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa
OMIM
ClinVar
PMID:9409377, PMID:9855554, PMID:21070897, PMID:21267618, PMID:22279524, PMID:22483575, PMID:23591405, PMID:25741868, PMID:26467025, PMID:27353947, PMID:28492532, PMID:28559085, PMID:30444160, PMID:30656474 NCBI chr13:109,624,167...109,629,609
Ensembl chr13:109,578,074...109,629,482
JBrowse link
G Flvcr2 FLVCR 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 chr 6:109,617,348...109,681,495
Ensembl chr 6:109,617,355...109,681,495
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        fundus dystrophy 333
          retinitis pigmentosa 266
            Posterior Column Ataxia with Retinitis Pigmentosa 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          eye disease 2652
            retinal disease 780
              retinal degeneration 466
                fundus dystrophy 333
                  retinitis pigmentosa 266
                    Posterior Column Ataxia with Retinitis Pigmentosa 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.