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Summary Literature (0)
DOID:0090114 - Sorsby's fundus dystrophy

Disease Ontology Definition:A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12.

Synonyms: hemorrhagic macular dystrophy, pseudoinflammatory fundus dystrophy of Sorsby, SFD

Xenbase Genes : timp3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007640 - Sorsby fundus dystrophy


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), hereditary retinal dystrophy (is_a)