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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 JBrowse link 3 146,630,298 146,690,375 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              retinal disease 715
                retinal degeneration 407
                  fundus dystrophy 264
                    retinitis pigmentosa 242
                      PHARC syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.