loading...| Preferred Name | Optic Atrophy, Hereditary, Leber | |
| Synonyms |
Leber Hereditary Optic Neuropathy Neuropathy, Leber's Optic Optic Neuroretinopathy, Hereditary Leber's Disease Optic Neuroretinopathies, Hereditary Leber's Optic Neuropathy Hereditary Optic Neuroretinopathies Leber Disease Leber's Hereditary Optic Neuropathy Hereditary Optic Neuroretinopathy Lebers Disease Leber's Optic Atrophy Optic Neuropathy, Leber's Leber Optic Neuropathy Optic Atrophy, Leber, Hereditary Leber Optic Atrophy and Dystonia Leber's Diseases Disease, Leber's Leber Optic Atrophy Neuroretinopathies, Hereditary Optic Leber Hereditary Optic Atrophy Leber's Hereditary Optic Atrophy Optic Atrophy, Leber Diseases, Leber's Optic Atrophy, Leber Type Neuroretinopathy, Hereditary Optic Lebers Optic Neuropathy |
|
| Definitions |
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)) |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D029242 |
|
| altLabel |
Leber Hereditary Optic Neuropathy Neuropathy, Leber's Optic Optic Neuroretinopathy, Hereditary Leber's Disease Optic Neuroretinopathies, Hereditary Leber's Optic Neuropathy Hereditary Optic Neuroretinopathies Leber Disease Leber's Hereditary Optic Neuropathy Hereditary Optic Neuroretinopathy Lebers Disease Leber's Optic Atrophy Optic Neuropathy, Leber's Leber Optic Neuropathy Optic Atrophy, Leber, Hereditary Leber Optic Atrophy and Dystonia Leber's Diseases Disease, Leber's Leber Optic Atrophy Neuroretinopathies, Hereditary Optic Leber Hereditary Optic Atrophy Leber's Hereditary Optic Atrophy Optic Atrophy, Leber Diseases, Leber's Optic Atrophy, Leber Type Neuroretinopathy, Hereditary Optic Lebers Optic Neuropathy |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0917796 |
|
| DC |
1 |
|
| 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)) |
|
| DX |
20020101 |
|
| HN |
2002; use OPTIC ATROPHIES, HEREDITARY 1999-2001 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
2002; see OPTIC ATROPHIES, HEREDITARY 1999-2001 |
|
| Mapped from | ||
| MDA |
20010725 |
|
| MMR |
20130708 |
|
| MN |
C18.452.660.670 C16.320.290.564.400 C11.640.451.451.400 C11.270.564.400 C10.574.500.662.400 C10.292.700.225.500.400 C16.320.400.630.400 |
|
| notation |
D029242 |
|
| prefLabel |
Optic Atrophy, Hereditary, Leber |
|
| TERMUI |
T045526 T752613 T751053 T045530 T841891 T446827 T446826 T045527 T045532 T045531 T752614 T843581 T045533 |
|
| TH |
OMIM (2013) NLM (2002) NLM (1999) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |