dystonia 9
type: Thing
description: human disease
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: dystonia
additional property: PropertyValue
  property ID: P279
  value: paroxysmal dystonia
additional property: PropertyValue
  property ID: P279
  value: genetic disease
additional property: PropertyValue
  property ID: P486
  value: C563401
additional property: PropertyValue
  property ID: P492
  value: 601042
additional property: PropertyValue
  property ID: P699
  value: DOID:0090044
additional property: PropertyValue
  property ID: P1550
  value: 53583
additional property: PropertyValue
  property ID: P1995
  value: neurology
additional property: PropertyValue
  property ID: P2293
  value: GLUT1
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0090044
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0090044
additional property: PropertyValue
  property ID: P2892
  value: C1832855
additional property: PropertyValue
  property ID: P4229
  value: G24.8
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0010983
additional property: PropertyValue
  property ID: P11430
  value: DI-03550
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 6
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 6
  monthly pageviews: 0
  yearly pageviews: 0
  tier: established
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q906492
    source count: 1
    confidence: 0.2
    value label: dystonia
  P279:
    value: Q55785905
    source count: 1
    confidence: 0.2
    value label: paroxysmal dystonia
  P279:
    value: Q200779
    source count: 1
    confidence: 0.2
    value label: genetic disease
  P279:
    value: Q18553439
    source count: 1
    confidence: 0.2
    value label: autosomal dominant disease
  P486:
    value: C563401
    source count: 1
    confidence: 0.2
  P492:
    value: 601042
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0090044
    source count: 1
    confidence: 0.2
  P1550:
    value: 53583
    source count: 1
    confidence: 0.2
  P1995:
    value: Q83042
    source count: 0
    confidence: 0.0
    value label: neurology
  P2293:
    value: Q14904883
    source count: 3
    confidence: 0.6
    value label: GLUT1
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0090044
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0090044
    source count: 1
    confidence: 0.2
  P2892:
    value: C1832855
    source count: 1
    confidence: 0.2
  P4229:
    value: G24.8
    source count: 2
    confidence: 0.4
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0010983
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-03550
    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2021-11-29
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: Paroxysmal choreoathetosis/spasticity (DYT9) is caused by a GLUT1 defect.
  stated in qid: Q48954103
meta:
  wikidata id: Q32038804
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/dystonia-9
  markdown url: https://4ort.xyz/entity/dystonia-9.md
  facts url summary: https://4ort.xyz/entity/dystonia-9/facts.json
  facts url standard: https://4ort.xyz/entity/dystonia-9/facts.json
  facts url full: https://4ort.xyz/entity/dystonia-9/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-25T11:50:24.590796Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:13:52.164995+00:00Z