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Metadata
ID DOID:0060866
Name patterned macular dystrophy 1
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 PRPH2 gene on chromosome 6p21.
https://www.ncbi.nlm.nih.gov/pubmed/8251014
Xrefs

OMIM:169150

Synonyms

butterfly-shaped pigmentary maculary dystrophy 1 [EXACT]

MDPT1 [EXACT]

Parent Relationships

is_a patterned macular dystrophy

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