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DeCS
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Descriptor English:
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Optic Atrophy, Hereditary, Leber
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Descriptor Spanish:
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Atrofia Óptica Hereditaria de Leber
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Descriptor Portuguese:
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Atrofia Óptica Hereditária de Leber
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Synonyms English:
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Leber Hereditary Optic Atrophy
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Tree Number:
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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
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Definition English:
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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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History Note English:
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2002; use OPTIC ATROPHIES, HEREDITARY 1999-2001
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Allowable Qualifiers English:
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Record Number:
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36011
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Unique Identifier:
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D029242
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Occurrence in VHL:
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Similar:
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DeCS SciELO LILACS LIS
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