| Metadata | |
|---|---|
| ID | DOID:0060864 |
| Name | patterned macular 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. https://www.ncbi.nlm.nih.gov/pubmed/12724643, https://www.ncbi.nlm.nih.gov/pubmed/26691986 |
| Xrefs | |
| Synonyms |
butterfly-shaped pigmentary maculary dystrophy 2 [EXACT] MDPT2 [EXACT] |
| Parent Relationships |