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| Term | Doyne honeycomb retinal dystrophy | ID (Ontology) | DOID:0060745 (Human Disease) |
| 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. | ||
| Also Known As | "DHRD" ; "Doyne honeycomb degeneration of retina" | ||
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autosomal genetic disease |__autosomal dominant disease_____________ degeneration of macula and posterior pole | |__retinal drusen_________________________| Doyne honeycomb retinal dystrophy |
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autosomal dominant disease retinal drusen |
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GARD:1912 ICD10CM:H35.5 MESH:C535602 MIM:126600 ORDO:75376 |
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