loading...| Preferred Name |
Optic Atrophy, Hereditary, Leber [Disease/Finding] |
|
| Synonyms |
Leber Hereditary Optic Neuropathy |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000010951 |
|
| altLabel |
Leber Hereditary Optic Neuropathy Optic Atrophy, Hereditary, Leber Leber's Disease Leber's Optic Neuropathy Leber's Hereditary Optic Neuropathy Hereditary Optic Neuroretinopathy Leber's Optic Atrophy Optic Atrophy, Leber, Hereditary Leber Optic Atrophy and Dystonia Leber Optic Atrophy Leber Hereditary Optic Atrophy Leber's Hereditary Optic Atrophy Optic Atrophy, Leber Type |
|
| cui |
C0917796 |
|
| MESH DEFINITION |
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)) |
|
| MESH DUI |
D029242 |
|
| MeSH name |
Optic Atrophy, Hereditary, Leber |
|
| MESH UI |
M0333667 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000010951 |
|
| NUI |
N0000010951 |
|
| prefLabel |
Optic Atrophy, Hereditary, Leber [Disease/Finding] |
|
| SNOMED CID |
58610003 |
|
| tui |
T047 |
|
| subClassOf |