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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:Doyne honeycomb retinal dystrophy
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Accession:DOID:0060745 term browser browse the term
Definition:A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO)
Synonyms:exact_synonym: DHRD;   Malattia Leventinese
 narrow_synonym: Doyne honeycomb degeneration of retina;   MLVT;   radial drusen, autosomal dominant
 primary_id: MESH:C535602
 alt_id: OMIM:126600;   RDO:0000822
 xref: GARD:1912;   ORDO:75376
For additional species annotation, visit the Alliance of Genome Resources.


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Doyne honeycomb retinal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO DNA:missense mutation:cds:p.R345W (human)
protein:altered expression: :
ClinVar Annotator: match by OMIM:126600
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy
ClinVar Annotator: match by term: Malattia leventinese
OMIM
ClinVar
PMID:10369267, PMID:11384588, PMID:11389162, PMID:12242346, PMID:17666404, PMID:22031286, PMID:25077532, PMID:25741868, PMID:28492532, PMID:30541486, PMID:10369267, PMID:17664227, PMID:12242346 RGD:1598888, RGD:10401791, RGD:10401794 NCBI chr14:113,202,382...113,294,993
Ensembl chr14:113,202,419...113,295,014
JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Doyne honeycomb degeneration of retina ClinVar PMID:11139241, PMID:25675413, PMID:25741868, PMID:26842753, PMID:28492532 NCBI chr 9:16,085,933...16,386,176 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Diseases of the Aged 1249
      macular degeneration 157
        degeneration of macula and posterior pole 68
          retinal drusen 3
            Doyne honeycomb retinal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          neurodegenerative disease 3191
            eye degenerative disease 468
              retinal degeneration 466
                macular degeneration 157
                  degeneration of macula and posterior pole 68
                    retinal drusen 3
                      Doyne honeycomb retinal dystrophy 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.