Term:PHARC syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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 14875
    syndrome 4220
      PHARC syndrome 1
Path 2
Term Annotations click to browse term
  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
paths to the root


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