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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 with demyelinating disease of CNS
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Accession:DOID:0111756 term browser browse the term
Definition:A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. (DO)
Synonyms:exact_synonym: optic atrophy with demyelinating disease of CNS
 primary_id: OMIM:165200
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20174
    syndrome 9017
      Leber plus disease 3
        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
Path 2
Term Annotations click to browse term
  disease 20174
    disease of anatomical entity 18768
      nervous system disease 14810
        peripheral nervous system disease 2768
          neuropathy 2561
            cranial nerve disease 479
              optic nerve disease 229
                optic atrophy 123
                  Hereditary Optic Atrophies 71
                    Leber hereditary optic neuropathy 29
                      Leber plus disease 3
                        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
paths to the root