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patterned macular dystrophy 1
Summary
- Synonym
-
- MDPT1
- butterfly-shaped pigmentary maculary dystrophy 1
- 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 PRPH2 gene on chromosome 6p21.
- Super Class
- patterned macular dystrophy
External Links
- Disease Ontology
- DOID:0060866
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
