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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:33546218, 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:9536098 PMID:11139241 PMID:17576681 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 17129
    Diseases of the Aged 1288
      macular degeneration 144
        degeneration of macula and posterior pole 70
          retinal drusen 3
            Doyne honeycomb retinal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          neurodegenerative disease 3492
            eye degenerative disease 507
              retinal degeneration 505
                macular degeneration 144
                  degeneration of macula and posterior pole 70
                    retinal drusen 3
                      Doyne honeycomb retinal dystrophy 2
paths to the root