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late-onset retinal degeneration
Summary
- Synonym
-
- LORD
- autosomal dominant late-onset retinal degeneration
- Definition
- A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23.
- Super Class
- retinal degeneration
External Links
- Disease Ontology
- DOID:0060869
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
