Search Ontology:
Human Disease

patterned macular dystrophy 1

Term ID
DOID:0060866
Synonyms
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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