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Metadata
ID DOID:0060864
Name patterned macular dystrophy 2
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.
https://www.ncbi.nlm.nih.gov/pubmed/12724643, https://www.ncbi.nlm.nih.gov/pubmed/26691986
Xrefs

OMIM:608970

Synonyms

butterfly-shaped pigmentary maculary dystrophy 2 [EXACT]

MDPT2 [EXACT]

Parent Relationships

is_a patterned macular dystrophy

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