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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Mohr-Tranebjaerg syndrome
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Accession:EFO:Orphanet:52368 term browser browse the term
Definition:Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.
Comment:"orphanet"
Synonyms:exact_synonym: DDON syndrome;   Deafness - dystonia - optic neuronopathy syndrome
 xref: ICD10:G31.8;   MESH:C535808;   MIM:304700;   MIM:311150;   UMLS:C0796074


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  experimental factor 0
    material property 0
      disposition 0
        disease 0
          metabolic disease 0
            Disorder of energy metabolism 0
              Mohr-Tranebjaerg syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            sensory system disease 0
              auditory system disease 0
                hearing disorder 0
                  hearing loss 0
                    deafness 0
                      Rare genetic deafness 0
                        Syndromic genetic deafness 0
                          Mohr-Tranebjaerg syndrome 0
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