Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:136900 - fundus dystrophy, pseudoinflammatory, of sorsby; sfd

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)