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DO Term : retinal cone dystrophy 3B [DOID:0081022] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.
  • synonyms:
  • cone dystrophy with supernormal rod responses,
  • MESH:C563678,
  • 610356,
  • GARD:10649,
  • ORDO:209932,
  • OMIM:610356
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