OBO ID: DOID:0060866
Term Name: patterned macular dystrophy 1 Search Ontology:
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 )
OTHER patterned macular dystrophy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRPH2 Macular dystrophy, patterned, 1 169150
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None