FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term late-onset retinal degeneration ID (Ontology) DOID:0060869 (Human Disease)
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.
Also Known As "autosomal dominant late-onset retinal degeneration" ; "LORD"
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retinal disease___________
eye degenerative disease__|
                          retinal degeneration
                           |__late-onset retinal degeneration
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Synonyms
  • "autosomal dominant late-onset retinal degeneration" EXACT
    "LORD" EXACT OMO:0003012
Secondary IDs
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GARD:4357
MESH:C565309
MIM:605670
ORDO:67042