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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Leber hereditary optic neuropathy
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Accession:DOID:705 term browser browse the term
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))
Synonyms:exact_synonym: Hereditary Optic Neuroretinopathy;   LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF;   LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO;   LHON;   LHON, MODIFIER OF;   LOAS;   Leber Disease;   Leber Optic Atrophy;   Leber Optic Atrophy and Dystonia;   Leber Optic Neuropathy;   Leber hereditary optic atrophy;   Leber's Disease;   Leber's Diseases;   Leber's Hereditary Optic Atrophy;   Leber's Hereditary Optic Neuropathy;   Leber's Optic Atrophy;   Leber's Optic Neuropathy;   Lebers Disease;   Lebers Optic Neuropathy;   hereditary optic neuroretinopathies;   optic atrophy, Leber type
 primary_id: MESH:D029242
 alt_id: OMIM:308905;   OMIM:535000
 xref: GARD:6870;   ICD10CM:H47.22;   NCI:C84808
For additional species annotation, visit the Alliance of Genome Resources.


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Leber hereditary optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:18061280 RGD:5685659 NCBI chr 8:50,536,983...50,539,371
Ensembl chr 8:50,537,009...50,539,376
JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chr13:99,271,390...99,300,580
Ensembl chr13:99,271,366...99,300,579
JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 susceptibility ISO DNA:missense mutations, haplotype:cds:m.8584G>A (p.A20T), m.8684C>T (p.T53I) (human)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.8668T>C, p.W48R (human)
ClinVar
CTD
PMID:7726182 PMID:20301353 PMID:30143805, PMID:19026397, PMID:20454697 RGD:5490293, RGD:5508187 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 PMID:8680405 PMID:9742104 PMID:10577941 PMID:16152638 PMID:17659260 PMID:20301595 PMID:25741868 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy
CTD
ClinVar
PMID:7573056 PMID:7804416 PMID:8037217 PMID:8240356 PMID:20301353 PMID:25741868 PMID:30143805 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by OMIM:535000
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1732158 PMID:1764087 PMID:7901141 PMID:8240104 PMID:8321540 PMID:8755941 PMID:20301353 PMID:25741868 PMID:30143805 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.3635G>A (human)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Optic atrophy, Leber type
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.L289M (m.4171C>A) (human)
DNA:missense mutation:cds:m.3866T>C (p.I187T) (human)
DNA:snps:cds:m.4136A>G, m.4160T>C (human)
DNA:snp:cds:m.3394T>C (human)
DNA:transition:CDS:c.3460G>A, p.A52T (human)
ClinVar
CTD
PMID:1417830 PMID:1442494 PMID:1550131 PMID:1674640 PMID:1732158 PMID:1734726 PMID:1900003 PMID:1928099 PMID:1959619 PMID:8496715 PMID:11479733 PMID:11854175 PMID:12112111 PMID:12205655 PMID:15342361 PMID:15466014 PMID:15505787 PMID:15972314 PMID:16738010 PMID:16969869 PMID:17562939 PMID:17620555 PMID:18216301 PMID:19497304 PMID:19555656 PMID:20301353 PMID:22879922 PMID:24569607 PMID:24830958 PMID:24884847 PMID:25194554 PMID:25741868 PMID:27449621 PMID:29991444 PMID:30143805, PMID:11479733, PMID:12112111, PMID:22577081, PMID:2018041, PMID:19324017, PMID:20454697 RGD:5508685, RGD:8657118, RGD:8657116, RGD:5508712, RGD:5508689, RGD:5508187 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO DNA:transversion:CDS:c.4852T>A, p.L128Q (human)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
ClinVar
CTD
PMID:1732158 PMID:1900003 PMID:11479733 PMID:20301353 PMID:30143805, PMID:20454697 RGD:5508187 NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO DNA: mutation
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar PMID:12227465 PMID:17152068 PMID:17413873 PMID:19458970 PMID:20301353 PMID:30143805, PMID:19458970 RGD:5508703 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO DNA:mutation:exon:p.R340H(human)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
DNA:transition:CDS:c.11778G>A (p.R340H) (human)
DNA:mutation:exon: 11778G>A
DNA:mutation: :m.11696G>A(human)
ClinVar
CTD
PMID:1346348 PMID:1352537 PMID:1417830 PMID:1469456 PMID:1734726 PMID:1763894 PMID:1770533 PMID:1770665 PMID:1866007 PMID:1900003 PMID:1937476 PMID:1959619 PMID:1959931 PMID:2039048 PMID:2286378 PMID:2346190 PMID:2346203 PMID:2390098 PMID:2566021 PMID:2566116 PMID:2575667 PMID:2817063 PMID:3201231 PMID:8101084 PMID:8240101 PMID:8240102 PMID:8448903 PMID:8449667 PMID:8457609 PMID:8474822 PMID:8489402 PMID:8489411 PMID:8644732 PMID:9150158 PMID:11169561 PMID:11854175 PMID:12402249 PMID:12560876 PMID:12707444 PMID:15342361 PMID:15576045 PMID:16120329 PMID:16431939 PMID:16477364 PMID:16532388 PMID:18771762 PMID:19026397 PMID:20301353 PMID:24569607 PMID:25741868 PMID:30143805, PMID:3201231, PMID:20454697, PMID:18771762, PMID:19022198, PMID:16364244, PMID:12436196 RGD:1581057, RGD:5508187, RGD:5507829, RGD:5491183, RGD:1581058, RGD:1581059 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537
JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO DNA:missense mutation:cds:m.10680G>A (p.A71T) (human)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:m.10663T>C (p.V65A) (human)
ClinVar
CTD
PMID:8680405 PMID:11935318 PMID:20301353 PMID:30143805, PMID:19394449, PMID:11935318 RGD:5686339, RGD:5686341 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166
JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber's optic atrophy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:535000
DNA:mutation: :m.13708G>A (human)
DNA:mutation:exon:13042G>A (A236T) (human)
DNA:mutation:exon:p.Y159H(human)
DNA:mutation:: m.12338 T>C
ClinVar
CTD
PMID:1417830 PMID:1732158 PMID:1764087 PMID:1900003 PMID:8213825 PMID:12509858 PMID:12736867 PMID:15767514 PMID:16240359 PMID:16816025 PMID:17400793 PMID:18332249 PMID:20301353 PMID:21131053 PMID:27164671 PMID:30143805, PMID:16240359, PMID:1732158, PMID:16816025, PMID:19022198, PMID:21131053 RGD:1581060, RGD:5507826, RGD:5491202, RGD:5491183, RGD:5491172 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565
JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO DNA:SNP, haplotypes: :m.14484T>C (human)
ClinVar Annotator: match by term: Leber hereditary optic neuropathy
ClinVar Annotator: match by term: Leber optic atrophy and dystonia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic Atrophy, Hereditary, Leber
DNA:mutation: :m.13997G>A (p.P25L) (mouse)
DNA:missense mutations, haplotypes:cds:multiple
DNA:missense mutation:cds:m.14502T>C (p.I58V) (human)
ClinVar
CTD
PMID:1463007 PMID:1634041 PMID:5511487 PMID:7654063 PMID:8016139 PMID:8470982 PMID:8622678 PMID:8644732 PMID:8854108 PMID:9012411 PMID:9177303 PMID:9849804 PMID:10072046 PMID:10631164 PMID:10894222 PMID:11133798 PMID:12112086 PMID:12205655 PMID:12736867 PMID:12827453 PMID:14735585 PMID:15342361 PMID:15922297 PMID:15954041 PMID:16380132 PMID:18674747 PMID:20301353 PMID:24569607 PMID:25741868 PMID:29987491 PMID:30143805, PMID:23665487, PMID:23129651, PMID:24398099, PMID:19732751 RGD:8657119, RGD:8657127, RGD:8657125, RGD:8657123 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber's optic atrophy ClinVar PMID:25741868 NCBI chr13:89,606,848...89,623,506
Ensembl chr13:89,606,840...89,619,398
JBrowse link
G Parl presenilin associated, rhomboid-like no_association ISO DNA:snps:introns:c.126-157G>A (rs3749446), c.321+112A>G (rs1402000) (human) RGD PMID:20407791, PMID:20711738 RGD:12902617, RGD:12902618 NCBI chr11:84,517,368...84,544,463
Ensembl chr11:84,517,368...84,544,462
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber's optic atrophy OMIM
ClinVar
PMID:32516135 NCBI chr  X:15,682,652...15,693,473
Ensembl chr  X:15,682,653...15,693,473
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy ClinVar PMID:28492532 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chr15:28,521,287...28,575,046
Ensembl chr15:28,522,737...28,574,737
JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:15293270, PMID:12601034 RGD:8158101, RGD:8158104 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy with dystonia ClinVar PMID:17152068 PMID:17413873 PMID:19458970 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
Leber plus disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufaf5 NADH:ubiquinone oxidoreductase complex assembly factor 5 ISO ClinVar Annotator: match by term: Leber plus disease ClinVar PMID:25741868 NCBI chr 3:133,232,412...133,261,932
Ensembl chr 3:133,232,432...133,261,973
JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISS MouseDO NCBI chr  X:15,682,652...15,693,473
Ensembl chr  X:15,682,653...15,693,473
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        mitochondrial metabolism disease 389
          Leber hereditary optic neuropathy 26
            Leber plus disease + 3
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        peripheral nervous system disease 2516
          neuropathy 2316
            cranial nerve disease 439
              optic nerve disease 218
                optic atrophy 113
                  Hereditary Optic Atrophies 63
                    Leber hereditary optic neuropathy 26
                      Leber plus disease + 3
paths to the root