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DO Term : retinal macular dystrophy 2 [DOID:0070517] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32.
  • synonyms:
  • SNOMEDCT_US_2023_03_01:770594005,
  • MESH:C562746,
  • UMLS_CUI:C4749334,
  • OMIM:608051,
  • ORDO:319640,
  • MCDR2,
  • 608051
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