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Metadata
ID DOID:0090114
Name Sorsby's fundus dystrophy
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.
https://www.ncbi.nlm.nih.gov/pubmed/26077580, https://www.ncbi.nlm.nih.gov/pubmed/26239453, https://www.omim.org/entry/136900
Xrefs

OMIM:136900

Synonyms

hemorrhagic macular dystrophy [EXACT]

pseudoinflammatory fundus dystrophy of Sorsby [EXACT]

SFD [EXACT]

Parent Relationships

is_a hereditary retinal dystrophy

is_a autosomal dominant disease

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