|
DOID:0090114 - Sorsby's fundus dystrophy
Disease Ontology 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.
Synonyms: SFD, hemorrhagic macular dystrophy, pseudoinflammatory fundus dystrophy of Sorsby,
Xenbase Genes
:
timp3
| MONDO:0007640 - Sorsby fundus dystrophy |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hereditary retinal dystrophy (is_a)