Concept information
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Optic Atrophy, Autosomal Dominant
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Tipo
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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.
Concepto genérico
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
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francés
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Atrophie du nerf optique autosomique dominante
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Atrophie optique dominante
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Atrophie optique dominante de Kjer
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Atrophie optique dominante de type 1
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Atrophie optique dominante de type I
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Maladie de Kjer
URI
http://data.loterre.fr/ark:/67375/JVR-TRH09QKJ-0
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