loading...| Preferred Name |
Optic Atrophy, Hereditary, Leber |
| Synonyms |
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 |
Lebers Optic Neuropathy Leber's Optic Neuropathy Leber Disease Optic Atrophy, Leber, Hereditary Lebers Disease Optic Neuropathy, Leber's Leber Hereditary Optic Neuropathy Neuropathy, Leber's Optic Leber's Hereditary Optic Neuropathy Hereditary Optic Neuroretinopathy Hereditary Optic Neuroretinopathies Leber Optic Atrophy and Dystonia Optic Neuroretinopathies, Hereditary Optic Atrophy, Leber Optic Neuroretinopathy, Hereditary Leber Optic Atrophy Leber's Disease Leber's Optic Atrophy Leber Optic Neuropathy Disease, Leber's Neuroretinopathies, Hereditary Optic Optic Atrophy, Leber Type Leber's Hereditary Optic Atrophy Neuroretinopathy, Hereditary Optic Diseases, Leber's Leber's Diseases Leber Hereditary Optic Atrophy |
| 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/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Machine permutation |
2002; see OPTIC ATROPHIES, HEREDITARY 1999-2001 |
| Mapped from | |
| MDA |
20010725 |
| MMR |
20130708 |
| MN |
C18.452.660.670 C16.320.400.630.400 C11.640.451.451.400 C11.270.564.400 C10.574.500.662.400 C16.320.290.564.400 C10.292.700.225.500.400 |
| notation |
D029242 |
| prefLabel |
Optic Atrophy, Hereditary, Leber |
| TERMUI |
T045531 T752614 T045530 T045527 T045526 T751053 T752613 T446827 T843581 T045532 T045533 T841891 T446826 |
| TH |
NLM (2002) NLM (2010) ORD (2010) OMIM (2013) NLM (1999) GHR (2014) |
| tui |
T047 |
| subClassOf |