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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: MIM:126700



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basal laminar drusen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfh complement factor H susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED
CTD
ClinVar
OMIM
PMID:3418956 PMID:8072530 PMID:9536098 PMID:9811382 PMID:10577907 More... NCBI chr13:51,512,376...51,613,829
Ensembl chr13:51,511,828...51,613,838
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        Hereditary Eye Diseases 1130
          basal laminar drusen 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              retinal disease 1459
                retinal degeneration 926
                  macular degeneration 161
                    degeneration of macula and posterior pole 78
                      retinal drusen 3
                        basal laminar drusen 1
paths to the root