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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
 xref: GARD:1912;   ORDO:75376


show annotations for term's descendants           Sort by:
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
ISS		 DNA:missense mutation:cds:p.R345W (human)
protein:altered expression: :
CTD Direct Evidence: marker/mechanism
OMIM:126600
ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... RGD:1598888, RGD:10401791, RGD:10401794 NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: MALATTIA LEVENTINESE ClinVar PMID:9536098 PMID:11139241 PMID:11704030 PMID:16113362 PMID:16799052 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Diseases of the Aged 1472
      macular degeneration 159
        degeneration of macula and posterior pole 77
          retinal drusen 3
            Doyne honeycomb retinal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              eye degenerative disease 853
                retinal degeneration 851
                  macular degeneration 159
                    degeneration of macula and posterior pole 77
                      retinal drusen 3
                        Doyne honeycomb retinal dystrophy 2
paths to the root