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 characterized by autosomal dominant inheritance of loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life that has_material_basis_in heterozygous mutation in the TIMP3 gene on chromosome 22q12.
References:
Ontology: Human Disease   (DOID:0090114)
Relationships
is a type of:
OTHER Sorsby's fundus dystrophy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TIMP3 Sorsby fundus dystrophy 136900
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None