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DO Term : retinal cone dystrophy 3A [DOID:0081025] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13.
  • synonyms:
  • GARD:10648,
  • 610024,
  • OMIM:610024,
  • MESH:C566483
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Ontology

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Ontology Term --> Direct parents