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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


show annotations for term's descendants           Sort by:
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 3:147,961,612...147,991,128
Ensembl chr 3:147,961,599...147,991,126 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISS MouseDO NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		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: Dystonia familial, with visual failure and striatal lucencies ClinVar PMID:15372108 PMID:17152068 PMID:17413873 PMID:18977334 PMID:19458970 More... NCBI chr MT:9,451...9,798
Ensembl chr MT:9,436...9,783 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    syndrome 11394
      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 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        peripheral nervous system disease 4403
          neuropathy 4188
            cranial nerve disease 830
              optic nerve disease 508
                optic atrophy 325
                  Hereditary Optic Atrophies 85
                    Leber hereditary optic neuropathy 29
                      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