OBO ID: DOID:0060866 |
Term Name: | patterned macular dystrophy 1 | Search Ontology: | |
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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. https://www.ncbi.nlm.nih.gov/pubmed/8251014 | ||
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Ontology: | Human Disease ( DOID:0060866 ) |
OTHER patterned macular dystrophy 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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