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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: MIM:612674
 xref: NCI:C206116;   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
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:612674
ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome 		OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chr 3:160,119,724...160,179,959
Ensembl chr 3:160,119,724...160,179,969 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              retinal disease 1474
                retinal degeneration 932
                  fundus dystrophy 788
                    retinitis pigmentosa 611
                      PHARC syndrome 1
paths to the root