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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 plus disease
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Accession:DOID:0111754 term browser browse the term
Definition:A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. (DO)
Synonyms:exact_synonym: LHON plus disease
 xref: ORDO:99718
For additional species annotation, visit the Alliance of Genome Resources.


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Leber plus disease term browser
Symbol Object Name 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
Leber hereditary optic neuropathy and dystonia term browser
Symbol Object Name 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Leber plus disease 3
        Leber hereditary optic neuropathy and dystonia 1
        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            cranial nerve disease 418
              optic nerve disease 217
                optic atrophy 114
                  Hereditary Optic Atrophies 63
                    Leber hereditary optic neuropathy 26
                      Leber plus disease 3
                        Leber hereditary optic neuropathy and dystonia 1
                        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
paths to the root