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DO Term : Doyne honeycomb retinal dystrophy [DOID:0060745] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:126600,
  • 126600,
  • ORDO:75376,
  • DHRD,
  • MESH:C535602,
  • GARD:1912,
  • Doyne honeycomb degeneration of retina,
  • ICD10CM:H35.5
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