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General Information
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| Term |
Sorsby's fundus dystrophy |
ID (Ontology) |
DOID:0090114 (Human Disease) |
| 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. |
| Also Known As |
"hemorrhagic macular dystrophy" ; "pseudoinflammatory fundus dystrophy of Sorsby" ; "SFD" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Sorsby's fundus dystrophy | 1 | for disease ribbon | Sorsby's fundus dystrophy | 1 | model of | Sorsby's fundus dystrophy | 1 |
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Relationships