Version: 8.0.0
Date: Tue Jan 28 2025
patterned macular dystrophy 1
DOID:0060866
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

patterned macular dystrophy 1

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
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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