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Optic Atrophy, Autosomal Dominant  

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Tipo

  • mesh:Descriptor

Definición

  • Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.

Etiquetas alternativas

  • Autosomal Dominant Optic Atrophy
  • Autosomal Dominant Optic Atrophy Kjer Type
  • Dominant Optic Atrophy
  • Kjer Type Optic Atrophy
  • Kjer's Optic Atrophy
  • Kjer-Type Optic Atrophy
  • Optic Atrophy 1
  • Optic Atrophy, Hereditary, Autosomal Dominant
  • Optic Atrophy, Juvenile
  • Optic Atrophy, Kjer Type
  • Optic Atrophy Type 1

En otras lenguas

  • francés

  • Atrophie du nerf optique autosomique dominante
  • Atrophie optique dominante
  • Atrophie optique dominante de Kjer
  • Atrophie optique dominante de type 1
  • Atrophie optique dominante de type I
  • Maladie de Kjer

URI

http://data.loterre.fr/ark:/67375/JVR-TRH09QKJ-0

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RDF/XML TURTLE JSON-LD Creado 25/7/01, última modificación 8/7/13