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Summary Literature (0)
DOID:0060866 - patterned macular dystrophy 1

Disease Ontology 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.

Synonyms: MDPT1, butterfly-shaped pigmentary maculary dystrophy 1

Referenced OMIM:

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : prph2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): patterned macular dystrophy (is_a)

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Version: 4.15.0
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