| Metadata | |
|---|---|
| ID | DOID:0060745 |
| Name | Doyne honeycomb retinal dystrophy |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10369267, https://www.ncbi.nlm.nih.gov/pubmed/11384588 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DHRD [EXACT] Doyne honeycomb degeneration of retina [EXACT] |
| Parent Relationships |
is_a retinal drusen |