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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 the RTN4IP1 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: OPA10;   RTN4IP1-RELATED CONDITION;   optic atrophy 10 with or without ataxia, impaired intellectual development and seizures;   optic atrophy 10 with or without ataxia, mental retardation, and seizures
 primary_id: MIM:616732



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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, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition OMIM
ClinVar
PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr20:47,382,251...47,422,747 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Neurodevelopmental Disorders 6967
        intellectual disability 4381
          optic atrophy 10 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        Neurologic Manifestations 10448
          sensory system disease 7376
            eye disease 3722
              visual pathway disease 199
                visual cortex disease 196
                  visual epilepsy 196
                    optic atrophy 10 1
paths to the root