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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:optic atrophy 11
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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 the YME1L1 gene on chromosome 10p12.1. (DO)
Synonyms:exact_synonym: OPA11
 primary_id: OMIM:617302


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 18969
    sensory system disease 6962
      eye disease 3491
        Hereditary Eye Diseases 1101
          Hereditary Optic Atrophies 82
            optic atrophy 11 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              optic nerve disease 372
                optic atrophy 190
                  Hereditary Optic Atrophies 82
                    optic atrophy 11 1
paths to the root