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DO Term : patterned macular dystrophy 3 [DOID:0060865] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • MDPT3,
  • Martinique crinkled retinal pigment epitheliopathy,
  • 617111,
  • OMIM:617111
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents