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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Efemp1 EGF containing fibulin extracellular matrix protein 1 JBrowse link 14 113,202,382 113,294,993 RGD:1598888
RGD:7240710
RGD:8554872
RGD:10401791
RGD:10401794

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Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          Doyne honeycomb retinal dystrophy 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        sensory system disease 4249
          eye and adnexa disease 1980
            eye disease 1980
              retinal disease 707
                retinal degeneration 396
                  macular degeneration 130
                    degeneration of macula and posterior pole 60
                      retinal drusen 2
                        Doyne honeycomb retinal dystrophy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.