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Sorsby's fundus dystrophy
Summary
- Synonym
-
- SFD
- hemorrhagic macular dystrophy
- pseudoinflammatory fundus dystrophy of Sorsby
- 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.
- Super Class
- autosomal dominant disease hereditary retinal dystrophy
External Links
- Disease Ontology
- DOID:0090114
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96AT9 | Ribulose-phosphate 3-epimerase |
