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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary ataxia
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Accession:EFO:0009671 term browser browse the term
Definition:A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS. An instance of an atactic disorder that is caused by an inherited genomic modification in an individual.
Synonyms:exact_synonym: rare hereditary ataxia
 related_synonym: SCA
 xref: DOID:0050951;   GARD:20286;   ICD10:G11;   ICD10CM:G11;   MEDGEN:2478;   MESH:C531684;   MONDO:0000557;   MONDO:0100309;   MedDRA:10062002;   ORDO:183518;   SCTID:763597000;   UMLS:C0004138;   Wikipedia:Ataxia#Hereditary_ataxias;   icd11.foundation:442347652
 see_also: https://rarediseases.info.nih.gov/diseases/6614/hereditary-ataxia" xsd:anyURI {source="GARD:0006614


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Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            atactic disorder 0
              hereditary ataxia 0
                EAST syndrome 0
                Richards-Rundle syndrome 0
                ataxia-hypogonadism-choroidal dystrophy syndrome 0
                ataxia-tapetoretinal degeneration syndrome 0
                autosomal dominant sensory ataxia 1 0
                cataract-ataxia-deafness syndrome 0
                hereditary cerebellar ataxia + 0
                hereditary episodic ataxia + 0
                hereditary spastic paraplegia 7 0
                ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0
                juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0
                muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0
                myoclonus-cerebellar ataxia-deafness syndrome 0
                spastic ataxia + 0
                spinocerebellar ataxia-dysmorphism syndrome 0
                tremor-ataxia-central hypomyelination 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
              neurodegenerative disease 0
                hereditary ataxia 0
                  EAST syndrome 0
                  Richards-Rundle syndrome 0
                  ataxia-hypogonadism-choroidal dystrophy syndrome 0
                  ataxia-tapetoretinal degeneration syndrome 0
                  autosomal dominant sensory ataxia 1 0
                  cataract-ataxia-deafness syndrome 0
                  hereditary cerebellar ataxia + 0
                  hereditary episodic ataxia + 0
                  hereditary spastic paraplegia 7 0
                  ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 0
                  juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 0
                  muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 0
                  myoclonus-cerebellar ataxia-deafness syndrome 0
                  spastic ataxia + 0
                  spinocerebellar ataxia-dysmorphism syndrome 0
                  tremor-ataxia-central hypomyelination syndrome 0
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