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Leberova hereditárna optická neuropatia
Record number d029242 Date 06.06.2025 Type M - MESH Topical term Leberova hereditárna optická neuropatia Other term English (Pseudonym) Leber Hereditary Optic Atrophy
Slovak (Pseudonym) Leberova dedičná atrofia zrakového nervu
Slovak (Pseudonym) Leberova atrofia zrakového nervu, dedičná
Slovak (Pseudonym) Leberova atrofia zrakového nervu, hereditárna
Slovak (Pseudonym) neuroretinopatia hereditárna optická
Slovak (Pseudonym) Leberova hereditárna optická atrofia
Slovak (Pseudonym) Leberova dedičná atrofia optika
UDC C10.292.700.225.500.400C10.574.500.662.400C11.270.564.400C11.640.451.451.400C16.320.290.564.400C16.320.400.630.400C18.452.660.670 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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Number of the records: 1