Search Ontology:
Human Disease
patterned macular dystrophy 1
- Term ID
- DOID:0060866
- Synonyms
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- butterfly-shaped pigmentary maculary dystrophy 1
- MDPT1
- 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
- References
- Ontology
- Human Disease ( DOID:0060866 )
- is a type of
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Genes Involved
Zebrafish Models