OBO ID: DOID:0090114
Term Name: Sorsby's fundus dystrophy Search Ontology:
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 )
OTHER Sorsby's fundus dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TIMP3 Sorsby fundus dystrophy 136900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None