OBO ID: DOID:0060864
Term Name: patterned macular dystrophy 2 Search Ontology:
Synonyms:
  • butterfly-shaped pigmentary maculary dystrophy 2
  • MDPT2
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 CTNNA1 gene on chromosome 5q31. (2)
References:
Ontology: Human Disease   ( DOID:0060864 )
Relationships
is a type of:
OTHER patterned macular dystrophy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CTNNA1 Macular dystrophy, patterned, 2 608970
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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