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patterned macular dystrophy 3

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any patterned macular dystrophy in which the cause of the disease is a mutation in the MAPKAPK3 gene.
Uniprot Description A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch's membrane changes resembling a 'dry desert land'. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0014920:  patterned macular dystrophy 3
Orphanet:466718: 
UMLS:C4310713: