Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 12
go back to main search page
Accession:DOID:0080840 term browser browse the term
Definition:An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)
Synonyms:exact_synonym: OPA12
 primary_id: OMIM:618977
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
optic atrophy 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: OPTIC ATROPHY 12
ClinVar Annotator: match by term: Optic atrophy 12
OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:26539208 PMID:29181157 PMID:32219868 More... NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Optic atrophy 12 ClinVar PMID:25741868 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        Hereditary Eye Diseases 631
          Hereditary Optic Atrophies 64
            optic atrophy 12 2
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            cranial nerve disease 440
              optic nerve disease 221
                optic atrophy 115
                  Hereditary Optic Atrophies 64
                    optic atrophy 12 2
paths to the root