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Metadata
ID DOID:0060865
Name patterned macular dystrophy 3
Definition A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21.
https://www.ncbi.nlm.nih.gov/pubmed/26744326
Xrefs

OMIM:617111

Synonyms

Martinique crinkled retinal pigment epitheliopathy [EXACT]

MDPT3 [EXACT]

Parent Relationships

is_a patterned macular dystrophy

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