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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: ABHD12-RELATED CONDITION;   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

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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 term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chrNW_004955415:31,284,947...31,337,703
Ensembl chrNW_004955415:31,284,947...31,337,160 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            eye disease 3166
              retinal disease 1107
                retinal degeneration 781
                  fundus dystrophy 660
                    retinitis pigmentosa 569
                      PHARC syndrome 1
paths to the root