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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 )
- is a type of
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