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vitelliform macular dystrophy 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene.
Uniprot Description A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity.
Mondo Term and Equivalent IDs
MONDO:0014508:  vitelliform macular dystrophy 4
UMLS:C4015342: