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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 the OPA1 gene on chromosome 3q29. (DO)
Synonyms:exact_synonym: AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME;   DOA+;   OPA1-RELATED OPTIC ATROPHY WITH OR WITHOUT EXTRAOCULAR FEATURES;   optic atrophy 1 and deafness;   optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
 primary_id: MESH:C537124
 alt_id: MIM:125250
 xref: GARD:5243


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		 CTD
ClinVar
OMIM		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      dominant optic atrophy plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        Neurologic Manifestations 10449
          sensory system disease 7376
            Otorhinolaryngologic Diseases 1799
              auditory system disease 1064
                Hearing Disorders 848
                  Hearing Loss 843
                    sensorineural hearing loss 648
                      dominant optic atrophy plus syndrome 1
paths to the root