Search Ontology:
Human Disease

patterned macular dystrophy 2

Term ID
DOID:0060864
Synonyms
  • butterfly-shaped pigmentary maculary dystrophy 2
  • MDPT2
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 CTNNA1 gene on chromosome 5q31. (2)
References
Ontology
Human Disease   ( DOID:0060864 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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