Search Ontology:
Human Disease

North Carolina macular dystrophy

Term ID
DOID:0070439
Synonyms
  • central areolar pigment epithelial dystrophy
  • central retinal pigment epithelial dystrophy
  • MCDR1
  • NCMD
  • progressive foveal dystrophy
  • retinal macular dystrophy 1
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. https://pubmed.ncbi.nlm.nih.gov/36243009
References
Ontology
Human Disease   ( DOID:0070439 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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