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ONTOLOGY REPORT - ANNOTATIONS


Term:patterned macular dystrophy 1
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Accession:DOID:0060866 term browser browse the term
Definition:A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: MDPT1;   butterfly-shaped pigmentary maculary dystrophy 1
 primary_id: OMIM:169150
 alt_id: RDO:9004327
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patterned macular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Diseases of the Aged 1181
      macular degeneration 142
        patterned macular dystrophy 4
          patterned macular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          eye disease 2338
            eye degenerative disease 418
              retinal degeneration 416
                fundus dystrophy 275
                  dystrophies primarily involving the retinal pigment epithelium 4
                    patterned macular dystrophy 4
                      patterned macular dystrophy 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.