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Echinobase
Summary Literature (0)
DOID:0060864 - patterned macular dystrophy 2

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 CTNNA1 gene on chromosome 5q31.

Synonyms: MDPT2, butterfly-shaped pigmentary maculary dystrophy 2,

Echinobase Genes :



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

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