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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: cuticular drusen;   drusen of Bruch membrane;   grouped drusen, early adult-onset
 primary_id: MESH:C563034
 alt_id: OMIM:126700
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          basal laminar drusen 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          eye disease 2936
            eye degenerative disease 533
              retinal degeneration 531
                macular degeneration 145
                  degeneration of macula and posterior pole 69
                    retinal drusen 3
                      basal laminar drusen 1
paths to the root