OBO ID: DOID:0090114 |
Term Name: | Sorsby's fundus dystrophy | Search Ontology: | |
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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. (3) | ||
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Ontology: | Human Disease ( DOID:0090114 ) |
OTHER Sorsby's fundus dystrophy PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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