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
|OMIM:169150 - MACULAR DYSTROPHY, PATTERNED, 1; MDPT1|
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)