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DO Term : patterned macular dystrophy 2 [DOID:0060864] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • butterfly-shaped pigmentary maculary dystrophy 2,
  • MDPT2,
  • 608970,
  • OMIM:608970
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents