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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:PHARC syndrome
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Accession:DOID:0080181 term browser browse the term
Definition:A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. (DO)
Synonyms:exact_synonym: PHARC;   polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC);   polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;   polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
 primary_id: MESH:C567203
 alt_id: OMIM:612674
 xref: ORDO:171848
For additional species annotation, visit the Alliance of Genome Resources.

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PHARC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by OMIM:612674
ClinVar Annotator: match by term: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract		 OMIM
ClinVar		 PMID:20797687 PMID:23806086 PMID:24088041 PMID:24697911 PMID:25741868 More... NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      nervous system disease 12101
        sensory system disease 5611
          eye disease 2732
            eye degenerative disease 508
              retinal degeneration 506
                fundus dystrophy 372
                  retinitis pigmentosa 301
                    PHARC syndrome 1
paths to the root