WormBase Tree Display for DO_term: DOID:0060864
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DOID:0060864 | Name | patterned macular dystrophy 2 | |||
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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 |