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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 :
MIM:136900 - fundus dystrophy, pseudoinflammatory, of sorsby; sfd |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
hereditary retinal dystrophy (is_a)