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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inherited dystonia
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Accession:EFO:MONDO:0044807 term browser browse the term
Definition:An instance of dystonic disorder that is caused by an inherited modification of the individual's genome.
Synonyms:exact_synonym: familial dystonia;   hereditary dystonic disorder;   rare genetic dystonia;   rare genetic dystonic disorder
 alt_id: MONDO:0044807
 xref: GARD:21630;   MEDGEN:1842468;   MIM:PS128100;   NANDO:1200511;   NCI:C35527;   ORDO:391799;   UMLS:C5680022


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            hereditary neurological disease 0
              inherited dystonia 0
                Woodhouse-Sakati syndrome 0
                autosomal dominant dopa-responsive dystonia + 0
                combined dystonia + 0
                developmental malformations-deafness-dystonia syndrome 0
                dopa-responsive dystonia due to sepiapterin reductase deficiency 0
                dystonia 28, childhood-onset 0
                dystonia 31 0
                dystonia 33 0
                dystonia 37, early-onset, with striatal lesions 0
                dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0
                isolated dystonia + 0
                lymphatic malformation 5 0
                severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0
                striatonigral degeneration, childhood-onset 0
                torsion dystonia 7 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            movement disorder 0
              extrapyramidal and movement disease 0
                dystonic disorder 0
                  inherited dystonia 0
                    Woodhouse-Sakati syndrome 0
                    autosomal dominant dopa-responsive dystonia + 0
                    combined dystonia + 0
                    developmental malformations-deafness-dystonia syndrome 0
                    dopa-responsive dystonia due to sepiapterin reductase deficiency 0
                    dystonia 28, childhood-onset 0
                    dystonia 31 0
                    dystonia 33 0
                    dystonia 37, early-onset, with striatal lesions 0
                    dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 0
                    isolated dystonia + 0
                    lymphatic malformation 5 0
                    severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0
                    striatonigral degeneration, childhood-onset 0
                    torsion dystonia 7 0
paths to the root