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ONTOLOGY REPORT - ANNOTATIONS


Term:PHARC syndrome
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Accession:DOID:0080181 term browser browse the term
Definition:An autosomal recessive disease 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;   polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC);   polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
 primary_id: MESH:C567203
 alt_id: OMIM:612674;   RDO:0015344
 xref: ORDO:171848
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PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abhd12 abhydrolase domain containing 12, lysophospholipase JBrowse link 3 146,630,298 146,690,375 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        sensory system disease 4663
          eye and adnexa disease 2225
            eye disease 2225
              retinal disease 725
                retinal degeneration 414
                  fundus dystrophy 273
                    retinitis pigmentosa 238
                      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.