- Concept UI
- M0333667
- Scope 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))
- Terms
-
Optic Atrophy, Hereditary, Leber
Preferred Term
Term UI
T446827
Date05/16/2001
LexicalTag
NON
ThesaurusID
NLM (2002)
-
Leber Optic Atrophy and Dystonia
Term UI
T751053
Date05/13/2009
LexicalTag
EPO
ThesaurusID
-
Leber's Disease
Term UI
T752613
Date06/10/2009
LexicalTag
NON
ThesaurusID
-
Leber's Hereditary Optic Atrophy
Term UI
T045532
Date04/13/1998
LexicalTag
EPO
ThesaurusID
NLM (1999)
-
Leber's Hereditary Optic Neuropathy
Term UI
T045531
Date04/13/1998
LexicalTag
EPO
ThesaurusID
-
Leber's Optic Atrophy
Term UI
T045526
Date04/13/1998
LexicalTag
EPO
ThesaurusID
-
Leber's Optic Neuropathy
Term UI
T843581
Date05/03/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Optic Atrophy, Leber Type
Term UI
T752614
Date06/10/2009
LexicalTag
EPO
ThesaurusID
-
Optic Atrophy, Leber, Hereditary
Term UI
T446826
Date05/16/2001
LexicalTag
NON
ThesaurusID
NLM (2002)
-
Hereditary Optic Neuroretinopathy
Term UI
T841891
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Leber Hereditary Optic Atrophy
Term UI
T045533
Date04/13/1998
LexicalTag
EPO
ThesaurusID
-
Leber Optic Atrophy
Term UI
T045527
Date04/13/1998
LexicalTag
EPO
ThesaurusID
-
Leber Hereditary Optic Neuropathy
Term UI
T045530
Date04/13/1998
LexicalTag
EPO
ThesaurusID