Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:dominant optic atrophy plus syndrome
go back to main search page
Accession:DOID:0111340 term browser browse the term
Definition:A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29. (DO)
Synonyms:exact_synonym: AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME;   DOA+;   optic atrophy 1 and deafness;   optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
 primary_id: MESH:C537124
 alt_id: OMIM:125250
 xref: GARD:5243
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dominant optic atrophy plus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by OMIM:125250
ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
ClinVar Annotator: match by term: Autosomal dominant optic atrophy plus syndrome
OMIM
ClinVar
PMID:4058877, PMID:6493699, PMID:12566046, PMID:14644237, PMID:15531309, PMID:16158427, PMID:16240368, PMID:17188070, PMID:17722006, PMID:18065439, PMID:18158317, PMID:18195150, PMID:19029523, PMID:19303950, PMID:20157015, PMID:21112924, PMID:21636302, PMID:21646330, PMID:22857269, PMID:25012220, PMID:25564500, PMID:25741868, PMID:26467025, PMID:27890673, PMID:28492532, PMID:28812649, PMID:29389947, PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      dominant optic atrophy plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          Otorhinolaryngologic Diseases 1202
            auditory system disease 767
              Hearing Disorders 623
                Hearing Loss 618
                  sensorineural hearing loss 493
                    dominant optic atrophy plus syndrome 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.