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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: LHON;   Leber Optic Atrophy;   Leber Optic Atrophy and Dystonia;   Leber Optic Neuropathy;   Leber disease;   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;   hereditary optic neuroretinopathy;   optic atrophy, Leber type
 primary_id: MESH:D029242
 alt_id: 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 chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G Ephx1 epoxide hydrolase 1 onset ISO DNA:missense mutation:cds:p.Y113H (human) RGD PMID:15838728 RGD:5688732 NCBI chrNW_004936526:2,589,254...2,652,831
Ensembl chrNW_004936526:2,614,059...2,653,286 		JBrowse link
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16250670 PMID:17011878 NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917 		JBrowse link
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:25741868 NCBI chrNW_004936903:503,633...514,235
Ensembl chrNW_004936903:499,300...514,893 		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 chrNW_004936578:5,945,765...5,992,972
Ensembl chrNW_004936578:5,945,635...5,993,143 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:32516135 NCBI chrNW_004936721:1,050,755...1,060,603
Ensembl chrNW_004936721:1,050,801...1,060,574 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:15322982 RGD:1599415 NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341 		JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Leber optic atrophy ClinVar PMID:28492532 NCBI chrNW_004936496:1,524,123...1,583,114 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16828753 PMID:17011878 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO RGD PMID:11283794 RGD:1599580 NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		JBrowse link
G Sod2 superoxide dismutase 2 treatment ISO RGD PMID:12601034 PMID:15293270 RGD:8158101 RGD:8158104 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Tp53 tumor protein p53 onset ISO DNA:polymorphism:cds:p.R72P(human) RGD PMID:15838728 RGD:5688732 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive 2 OMIM
ClinVar		 PMID:25741868 PMID:28031252 NCBI chrNW_004936903:503,633...514,235
Ensembl chrNW_004936903:499,300...514,893 		JBrowse link
Leber Optic Atrophy, Susceptibility To term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Leber optic atrophy, susceptibility to ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chrNW_004936543:2,895,771...2,897,761
Ensembl chrNW_004936543:2,897,068...2,897,745 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO OMIM NCBI chrNW_004936721:1,050,755...1,060,603
Ensembl chrNW_004936721:1,050,801...1,060,574 		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 chrNW_004936485:5,994,388...6,025,042
Ensembl chrNW_004936485:5,992,668...6,025,467 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO MouseDO NCBI chrNW_004936721:1,050,755...1,060,603
Ensembl chrNW_004936721:1,050,801...1,060,574 		JBrowse link
Nuclear Type Mitochondrial Complex I Deficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Leber hereditary optic neuropathy, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chrNW_004936543:2,895,771...2,897,761
Ensembl chrNW_004936543:2,897,068...2,897,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14500
    Nutritional and Metabolic Diseases 6791
      disease of metabolism 6791
        mitochondrial metabolism disease 771
          Leber hereditary optic neuropathy 16
            Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 1
            Leber Optic Atrophy, Susceptibility To 2
            Leber plus disease + 2
            Nuclear Type Mitochondrial Complex I Deficiency 38 1
Path 2
Term Annotations click to browse term
  disease 14500
    disease of anatomical entity 14149
      nervous system disease 12370
        Neurologic Manifestations 9057
          sensory system disease 6299
            eye disease 3229
              optic nerve disease 344
                optic atrophy 176
                  Hereditary Optic Atrophies 68
                    Leber hereditary optic neuropathy 16
                      Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 1
                      Leber Optic Atrophy, Susceptibility To 2
                      Leber plus disease + 2
                      Nuclear Type Mitochondrial Complex I Deficiency 38 1
paths to the root