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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: OMIM: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 IAGP
EXP		 ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RTN4IP1-related condition
ClinVar Annotator: match by term: Optic atrophy 10 with or without ataxia, mental retardation, and seizures | ClinVar Annotator: match by term: RTN4IP1-related condition
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		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26593267 PMID:28492532 PMID:28638143 PMID:29181510 More... NCBI chr 6:106,570,771...106,630,491
Ensembl chr 6:106,570,771...106,629,498 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Neurodevelopmental Disorders 13579
        intellectual disability 7177
          optic atrophy 10 1
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      nervous system disease 26372
        Neurologic Manifestations 15410
          sensory system disease 9759
            eye disease 4962
              visual pathway disease 389
                visual cortex disease 386
                  visual epilepsy 386
                    optic atrophy 10 1
paths to the root