ONTOLOGY REPORT - ANNOTATIONS


Term:basal laminar drusen
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Accession:DOID:0060746 term browser browse the term
Definition:A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO)
Synonyms:exact_synonym: Drusen of Bruch Membrane;   Drusen, Cuticular;   Drusen, Early Adult-Onset, Grouped
 primary_id: MESH:C563034
 alt_id: OMIM:126700;   RDO:0012487
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basal laminar drusen term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfh complement factor H JBrowse link 13 56,979,155 57,080,540 RGD:7240710
RGD:8554872

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  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          monogenic disease 2859
            basal laminar drusen 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
                    degeneration of macula and posterior pole 66
                      retinal drusen 2
                        basal laminar drusen 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.