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ONTOLOGY REPORT - ANNOTATIONS


Term:ocular albinism
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Accession:DOID:0050633 term browser browse the term
Definition:An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)
Synonyms:primary_id: MESH:D016117
 alt_id: OMIM:606933;   RDO:0002802
For additional species annotation, visit the Alliance of Genome Resources.


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ocular albinism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:13592920
G Slc24a5 solute carrier family 24 member 5 JBrowse link 3 117,335,212 117,354,480 RGD:13592920
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:8694339
RGD:7240710
RGD:8554872
G Tyrp1 tyrosinase-related protein 1 JBrowse link 5 98,387,291 98,406,083 RGD:8554872
Aland Island eye disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cabp4 calcium binding protein 4 JBrowse link 1 219,383,452 219,388,009 RGD:8554872
G Cacna1f calcium voltage-gated channel subunit alpha1 F JBrowse link X 15,712,709 15,741,135 RGD:7240710
RGD:8554872
RGD:13782379
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:8554872
Ocular Albinism Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpr143 G protein-coupled receptor 143 JBrowse link X 23,668,363 23,693,162 RGD:7240710
RGD:8554872
ocular albinism with sensorineural deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mitf melanocyte inducing transcription factor JBrowse link 4 130,172,484 130,425,496 RGD:7240710
G Tyr tyrosinase JBrowse link 1 151,012,598 151,106,802 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    sensory system disease 4697
      eye and adnexa disease 2259
        eye disease 2259
          ocular albinism 8
            Aland Island eye disease 3
            Minimal Pigment Type Albinism 0
            Ocular Albinism Type 1 1
            ocular albinism with sensorineural deafness 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        sensory system disease 4697
          eye and adnexa disease 2259
            eye disease 2259
              Hereditary Eye Diseases 505
                Albinism 48
                  ocular albinism 8
                    Aland Island eye disease 3
                    Minimal Pigment Type Albinism 0
                    Ocular Albinism Type 1 1
                    ocular albinism with sensorineural deafness 2
paths to the root

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