Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12955
    syndrome 6845
      Leber plus disease 1
        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
Path 2
Term Annotations click to browse term
  disease 12955
    disease of anatomical entity 12628
      nervous system disease 10533
        peripheral nervous system disease 2333
          neuropathy 2162
            cranial nerve disease 407
              optic nerve disease 191
                optic atrophy 99
                  Hereditary Optic Atrophies 51
                    Leber hereditary optic neuropathy 16
                      Leber plus disease 1
                        Leber hereditary optic neuropathy with demyelinating disease of CNS 0
paths to the root