OBO ID: DOID:0060865
Term Name: patterned macular dystrophy 3 Search Ontology:
Synonyms:
  • Martinique crinkled retinal pigment epitheliopathy
  • MDPT3
Definition: A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/26744326
References:
Ontology: Human Disease   ( DOID:0060865 )
Relationships
is a type of:
OTHER patterned macular dystrophy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MAPKAPK3 ?Macular dystrophy, patterned, 3 617111
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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