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patterned macular dystrophy 2
Summary
- Synonym
-
- MDPT2
- butterfly-shaped pigmentary maculary dystrophy 2
- 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.
- Super Class
- patterned macular dystrophy
External Links
- Disease Ontology
- DOID:0060864
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
