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An Entity of Type : skos:Concept, within Data Space : data.idref.fr associated with source document(s)

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type
sameAs
notation
  • C10.292.700.225.500.400
  • C10.574.500.662.400
  • C11.270.564.400
  • C11.640.451.451.400
  • C16.320.290.564.400
  • C16.320.400.630.400
  • C18.452.660.670
alternative label
  • Atrophie optique de Leber
  • Disease, Leber's
  • Hereditary Optic Neuroretinopathies
  • Leber Optic Atrophy
  • Leber's Optic Atrophy
  • Lebers Disease
  • Lebers Optic Neuropathy
  • Neuroretinopathy, Hereditary Optic
  • Optic Atrophy, Leber
  • Optic Atrophy, Leber, Hereditary
  • Optic Neuropathy, Leber's
  • Diseases, Leber's
  • Hereditary Optic Neuroretinopathy
  • Leber Optic Atrophy and Dystonia
  • Leber's Disease
  • Leber's Optic Neuropathy
  • Neuropathie optique de Leber
  • Neuropathie optique héréditaire de Leber
  • Optic Neuroretinopathies, Hereditary
  • Leber Disease
  • Leber Hereditary Optic Atrophy
  • Leber Hereditary Optic Neuropathy
  • Leber Optic Neuropathy
  • Leber's Diseases
  • Leber's Hereditary Optic Atrophy
  • Leber's Hereditary Optic Neuropathy
  • Neuropathy, Leber's Optic
  • Neuroretinopathies, Hereditary Optic
  • Optic Atrophy, Hereditary, Leber
  • Optic Atrophy, Leber Type
  • Optic Neuroretinopathy, Hereditary
preferred label
  • Atrophie optique héréditaire de Leber
is in scheme
note
  • A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))
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