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DO Term : optic atrophy 5 [DOID:0111438] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21.
  • synonyms:
  • OPA5,
  • 610708,
  • MESH:C537126,
  • OMIM:610708
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