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Disease Ontology Browser
Sorsby's fundus dystrophy (DOID:0090114)
Alliance: disease page
Synonyms: hemorrhagic macular dystrophy; pseudoinflammatory fundus dystrophy of Sorsby; SFD
Alt IDs: OMIM:136900
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory