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DOID:0060869 - late-onset retinal degeneration
Disease Ontology 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.
Synonyms: autosomal dominant late-onset retinal degeneration, LORD
Xenbase Genes
:
c1qtnf5
| MONDO:0011579 - late-onset retinal degeneration |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
retinal degeneration (is_a)