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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:dominant optic atrophy plus syndrome
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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.


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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
ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
OMIM
ClinVar
PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      dominant optic atrophy plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 17208
    disease of anatomical entity 16554
      nervous system disease 12100
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1343
            auditory system disease 909
              Hearing Disorders 739
                Hearing Loss 735
                  sensorineural hearing loss 606
                    dominant optic atrophy plus syndrome 1
paths to the root