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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:autosomal dominant optic atrophy plus syndrome
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Accession:EFO:MONDO:0014720 term browser browse the term
Definition:Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.
Synonyms:exact_synonym: DOA+;   optic atrophy type 8;   optic atrophy-deafness-polyneuropathy-myopathy syndrome
 related_synonym: Treft-Sanborn-Carey syndrome;   dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy;   optic atrophy - deafness- polyneuropathy - myopathy
 alt_id: MONDO:0014720
 xref: DOID:0111340;   GARD:5243;   ORDO:1215;   SCTID:715374003


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          mitochondrial disease 0
            autosomal dominant optic atrophy plus syndrome 0
              cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            central nervous system disease 0
              optic nerve disorder 0
                optic atrophy 0
                  primary optic atrophy 0
                    hereditary optic atrophy 0
                      autosomal dominant optic atrophy 0
                        autosomal dominant optic atrophy plus syndrome 0
                          cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 0
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