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 JBrowse link 3 146,630,298 146,690,375 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      PHARC syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  fundus dystrophy 264
                    retinitis pigmentosa 237
                      PHARC syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.