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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 10
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Accession:DOID:0111434 term browser browse the term
Definition:An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in RTN4IP1 on chromosome 6q21. (DO)
Synonyms:exact_synonym: OPA10;   optic atrophy 10 with or without ataxia, mental retardation, and seizures
 primary_id: OMIM:616732
For additional species annotation, visit the Alliance of Genome Resources.



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optic atrophy 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures OMIM
ClinVar
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Neurodevelopmental Disorders 5786
        intellectual disability 3518
          optic atrophy 10 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            disease of mental health 7143
              developmental disorder of mental health 4462
                specific developmental disorder 3707
                  intellectual disability 3518
                    optic atrophy 10 1
paths to the root