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Concept information

Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Optic Atrophy, Hereditary, Leber
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber
Eye Diseases > Eye Diseases, Hereditary > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber
... > Nervous System Diseases > Cranial Nerve Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber
Eye Diseases > Optic Nerve Diseases > Optic Atrophy > Optic Atrophies, Hereditary > Optic Atrophy, Hereditary, Leber

Terme préférentiel

Optic Atrophy, Hereditary, Leber  

Type

  • mesh:Descriptor

Définition

  • 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))

Concept générique

Synonyme(s)

  • Hereditary Optic Neuroretinopathy
  • Leber Hereditary Optic Atrophy
  • Leber Hereditary Optic Neuropathy
  • Leber Optic Atrophy
  • Leber Optic Atrophy and Dystonia
  • Leber's Disease
  • Leber's Hereditary Optic Atrophy
  • Leber's Hereditary Optic Neuropathy
  • Leber's Optic Atrophy
  • Leber's Optic Neuropathy
  • Optic Atrophy, Leber, Hereditary
  • Optic Atrophy, Leber Type

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-V06FWVK4-X

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RDF/XML TURTLE JSON-LD Date de création 25/07/2001, dernière modification le 08/07/2013