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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

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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 chrNW_004955415:23,221,084...23,263,548
Ensembl chrNW_004955415:23,221,084...23,262,073 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO MouseDO NCBI chrNW_004955543:662,438...673,386
Ensembl chrNW_004955543:662,438...673,662 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Leber plus disease 2
        Leber hereditary optic neuropathy and dystonia 0
        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            cranial nerve disease 635
              optic nerve disease 343
                optic atrophy 172
                  Hereditary Optic Atrophies 68
                    Leber hereditary optic neuropathy 16
                      Leber plus disease 2
                        Leber hereditary optic neuropathy and dystonia 0
                        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
paths to the root