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Summary Literature (0)
DOID:0060745 - Doyne honeycomb retinal dystrophy

Disease Ontology 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.

Synonyms: DHRD, Doyne honeycomb degeneration of retina

Xenbase Genes : cfh, efemp1, cfi

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007471 - Doyne honeycomb retinal dystrophy

MIM:
MIM:126600 - DOYNE HONEYCOMB RETINAL DYSTROPHY; DHRD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), retinal drusen (is_a)