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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: butterfly-shaped pigmentary maculary dystrophy 1, MDPT1

Xenbase Genes : prph2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008210 - patterned macular dystrophy 1


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): patterned macular dystrophy (is_a)