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DO Term : cone-rod dystrophy 14 [DOID:0080314] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1.
  • synonyms:
  • MESH:C566579,
  • 602093,
  • UMLS_CUI:C1865869,
  • UMLS_CUI:C1838190,
  • OMIM:602093
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