WormBase Tree Display for DO_term: DOID:0060864
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| DOID:0060864 | Name | patterned macular dystrophy 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | MDPT2 | |||
| butterfly-shaped pigmentary maculary dystrophy 2 | |||||
| Parent | Is_a | DOID:0060863 | |||
| DB_info | Database | OMIM | disease | 608970 | |
| Attribute_of | Gene_by_orthology | WBGene00001978 |
