FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term patterned macular dystrophy 2 ID (Ontology) DOID:0060864 (Human Disease)
Definition A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31.
Also Known As "butterfly-shaped pigmentary maculary dystrophy 2" ; "MDPT2"
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 Genes
 patterned macular dystrophy 2       1
 for disease ribbon | patterned macular dystrophy 2       1
 model of | patterned macular dystrophy 2       1
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  macular degeneration
   |__patterned macular dystrophy
       |__patterned macular dystrophy 2  1 rec.
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Is a patterned macular dystrophy
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Synonyms
  • "butterfly-shaped pigmentary maculary dystrophy 2" EXACT
    "MDPT2" EXACT OMO:0003012
Secondary IDs
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MIM:608970