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ONTOLOGY REPORT - ANNOTATIONS


Term:dominant optic atrophy plus syndrome
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Accession:DOID:0111340 term browser browse the term
Definition:An autosomal dominant disease 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 WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY;   Optic Atrophy 1 and Deafness
 primary_id: MESH:C537124
 alt_id: DOID:9001838;   OMIM:125250;   RDO:0002897
 xref: GARD:5243
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dominant optic atrophy plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    sensory system disease 4684
      auditory system disease 683
        inner ear disease 493
          sensorineural hearing loss 457
            dominant optic atrophy plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        peripheral nervous system disease 2126
          neuropathy 1949
            cranial nerve disease 361
              optic nerve disease 192
                optic atrophy 93
                  Hereditary Optic Atrophies 57
                    dominant optic atrophy plus syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.