Disease Information

GTO ID(s) GTC3176 | GTC0526
Disease NameGeographic Atrophy
Synonymsoptic atrophy 3, optic atrophy and cataract, autosomal dominant, optic atrophy 3, autosomal dominant, autosomal dominant optic atrophy and cataract
DefinitionDO:An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in OPA3 on chromosome 19q13.32.
Xref DO:0111433 | MESH:C537128 | MIM:165300 | GARD:10203 | MONDO:0008133 | MSH:C537128 | OMIM:165300 | ORDO:67036 | SNOMEDCT_US_2023_03_01:719517009 | UMLS_CUI:C1833809
Disease GroupOther

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