Send us a Message

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


RGD uses the Human Disease Ontology (DO, 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:optic atrophy 11
go back to main search page
Accession:DOID:0111436 term browser browse the term
Definition:An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in YME1L1 on chromosome 10p12.1. (DO)
Synonyms:exact_synonym: OPA11
 primary_id: OMIM:617302
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
optic atrophy 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Optic atrophy 11 OMIM
PMID:25741868 PMID:27495975 PMID:28492532 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      eye disease 2937
        Hereditary Eye Diseases 758
          Hereditary Optic Atrophies 73
            optic atrophy 11 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            cranial nerve disease 528
              optic nerve disease 284
                optic atrophy 178
                  Hereditary Optic Atrophies 73
                    optic atrophy 11 1
paths to the root