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Human Disease

Sorsby's fundus dystrophy

Term ID
DOID:0090114
Synonyms
  • hemorrhagic macular dystrophy
  • pseudoinflammatory fundus dystrophy of Sorsby
  • SFD
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)
References
Ontology
Human Disease   ( DOID:0090114 )
Relationships
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Genes Involved
Zebrafish Models