Version: 8.0.0
Date: Tue Jan 28 2025
North Carolina macular dystrophy
DOID:0070439
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

North Carolina macular dystrophy

Definition
A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.
Synonyms
  • central areolar pigment epithelial dystrophy
  • central retinal pigment epithelial dystrophy
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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