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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, PMID:26257172, PMID:26467025, PMID:28492532, PMID:29571850 NCBI chr 3:146,630,298...146,690,375
Ensembl chr 3:146,630,299...146,690,375
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          eye disease 2592
            eye degenerative disease 465
              retinal degeneration 463
                fundus dystrophy 331
                  retinitis pigmentosa 264
                    PHARC syndrome 1
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.