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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
ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures
ClinVar
OMIM
PMID:26593267 PMID:29181510 NCBI chr20:48,881,124...48,924,921
Ensembl chr20:48,881,194...48,925,081
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      Neurodevelopmental Disorders 4534
        intellectual disability 2171
          optic atrophy 10 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        central nervous system disease 9099
          brain disease 8407
            disease of mental health 5991
              developmental disorder of mental health 3124
                specific developmental disorder 2322
                  intellectual disability 2171
                    optic atrophy 10 1
paths to the root