ONTOLOGY REPORT - ANNOTATIONS


Term:vitelliform macular dystrophy
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Accession:DOID:0050661 term browser browse the term
Definition:Autosomal dominant hereditary maculopathy with childhood-onset accumulation of LIPOFUSION in RETINAL PIGMENT EPITHELIUM. Affected individuals develop progressive central acuity loss, and distorted vision (METAMORPHOPSIA). It is associated with mutations in bestrophin, a chloride channel.
Synonyms:exact_synonym: vitelliform dystrophy;   vitelliform macular dystrophies
 primary_id: MESH:D057826
 alt_id: RDO:0003738
 xref: GARD:10120;   OMIM:PS153840;   ORDO:1243;   ORDO:99000
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vitelliform macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
RGD:11554173
G Htra1 HtrA serine peptidase 1 JBrowse link 1 201,499,067 201,548,508 RGD:7394745
G Impg1 interphotoreceptor matrix proteoglycan 1 JBrowse link 8 87,733,374 87,879,958 RGD:11554173
G Impg2 interphotoreceptor matrix proteoglycan 2 JBrowse link 11 46,615,091 46,693,565 RGD:11554173
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8553221
RGD:11554173
RGD:8554872
RGD:8554859
RGD:8553239
Vitelliform Macular Dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Myh9 myosin, heavy chain 9 JBrowse link 7 118,740,005 118,792,507 RGD:8554872
Vitelliform Macular Dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
RGD:7240710
G Fth1 ferritin heavy chain 1 JBrowse link 1 226,030,940 226,033,228 RGD:8554872
Vitelliform Macular Dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Best1 bestrophin 1 JBrowse link 1 226,033,146 226,049,893 RGD:8554872
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:7240710
RGD:8554872
Vitelliform Macular Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impg1 interphotoreceptor matrix proteoglycan 1 JBrowse link 8 87,733,374 87,879,958 RGD:8554872
RGD:7240710
Vitelliform Macular Dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Impg2 interphotoreceptor matrix proteoglycan 2 JBrowse link 11 46,615,091 46,693,565 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Diseases of the Aged 1152
      macular degeneration 138
        vitelliform macular dystrophy 7
          Vitelliform Macular Dystrophy 1 1
          Vitelliform Macular Dystrophy 2 2
          Vitelliform Macular Dystrophy 3 2
          Vitelliform Macular Dystrophy 4 1
          Vitelliform Macular Dystrophy 5 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              retinal disease 719
                retinal degeneration 410
                  macular degeneration 138
                    vitelliform macular dystrophy 7
                      Vitelliform Macular Dystrophy 1 1
                      Vitelliform Macular Dystrophy 2 2
                      Vitelliform Macular Dystrophy 3 2
                      Vitelliform Macular Dystrophy 4 1
                      Vitelliform Macular Dystrophy 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.