adult-onset basal ganglia disease
type: Thing
description: Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits
additional property: PropertyValue
  property ID: P31
  value: designated intractable/rare 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: neurodegeneration with brain iron accumulation
additional property: PropertyValue
  property ID: P279
  value: Huntington's disease-like syndrome
additional property: PropertyValue
  property ID: P279
  value: nervous system heredodegenerative disease
additional property: PropertyValue
  property ID: P486
  value: C548080
additional property: PropertyValue
  property ID: P492
  value: 606159
additional property: PropertyValue
  property ID: P665
  value: H01779
additional property: PropertyValue
  property ID: P699
  value: DOID:0110737
additional property: PropertyValue
  property ID: P1325
  value: http://www.nanbyou.or.jp/entry/4807
additional property: PropertyValue
  property ID: P1550
  value: 157846
additional property: PropertyValue
  property ID: P1692
  value: 333.0
additional property: PropertyValue
  property ID: P1995
  value: neurology
additional property: PropertyValue
  property ID: P2293
  value: FTL
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0110737
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0110737
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_157846
additional property: PropertyValue
  property ID: P2892
  value: C1853578
additional property: PropertyValue
  property ID: P4229
  value: G23.0
additional property: PropertyValue
  property ID: P4317
  value: 10686
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0011638
additional property: PropertyValue
  property ID: P5806
  value: 699299001
additional property: PropertyValue
  property ID: P6366
  value: 2780909651
additional property: PropertyValue
  property ID: P7464
  value: neuroferritinopathy
additional property: PropertyValue
  property ID: P11143
  value: Neuroferritinopathy
additional property: PropertyValue
  property ID: P11430
  value: DI-02044
confidence:
  popularity graph score:
    score: 0.005
    score pct: 1
    tier: established
    components:
      sitelinks: 5
      sitelinks norm: 0.012
      unique citations: 7
      unique citations norm: 0.003
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 5
  unique citations: 7
  monthly pageviews: 0
  yearly pageviews: 55
  pageview trend:
    m: 2026-06
    v: 36
  pageview trend:
    m: 2026-05
    v: 4
  pageview trend:
    m: 2026-05
    v: 2
  pageview trend:
    m: 2026-05
    v: 1
  pageview trend:
    m: 2026-04
    v: 12
  popularity:
    sitelinks: 5
    max: 423
    pct: 1.2
  tier: established
claims:
  P31:
    value: Q42303753
    source count: 1
    confidence: 0.2
    value label: designated intractable/rare disease
  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: Q16892735
    source count: 2
    confidence: 0.4
    value label: neurodegeneration with brain iron accumulation
  P279:
    value: Q24977062
    source count: 1
    confidence: 0.2
    value label: Huntington's disease-like syndrome
  P279:
    value: Q19001236
    source count: 1
    confidence: 0.2
    value label: nervous system heredodegenerative disease
  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: C548080
    source count: 1
    confidence: 0.2
  P492:
    value: 606159
    source count: 2
    confidence: 0.4
  P665:
    value: H01779
    source count: 0
    confidence: 0.0
  P699:
    value: DOID:0110737
    source count: 1
    confidence: 0.2
  P1325:
    value: http://www.nanbyou.or.jp/entry/4807
    source count: 1
    confidence: 0.2
  P1550:
    value: 157846
    source count: 1
    confidence: 0.2
  P1692:
    value: 333.0
    source count: 1
    confidence: 0.2
  P1995:
    value: Q83042
    source count: 0
    confidence: 0.0
    value label: neurology
  P2293:
    value: Q18024732
    source count: 3
    confidence: 0.6
    value label: FTL

value: http://purl.obolibrary.org/obo/DOID_0110737
source count: 1
confidence: 0.2

value: http://identifiers.org/doid/DOID:0110737
source count: 1
confidence: 0.2

value: http://www.orpha.net/ORDO/Orphanet_157846
source count: 0
confidence: 0.0

value: C1853578
source count: 1
confidence: 0.2

value: G23.0
source count: 1
confidence: 0.2

value: 10686
source count: 0
confidence: 0.0

value: Q4099686
source count: 0
confidence: 0.0
value label: WikiProject Medicine

value: MONDO_0011638
source count: 0
confidence: 0.0

value: 699299001
source count: 1
confidence: 0.2

value: 2780909651
source count: 0
confidence: 0.0

value: neuroferritinopathy
source count: 0
confidence: 0.0

value: Neuroferritinopathy
source count: 0
confidence: 0.0

value: DI-02044
source count: 0
confidence: 0.0

source: Open Targets Platform
stated in qid: Q113138000
retrieved: 2023-08-24

source: Identifiers.org
stated in qid: Q16335166

retrieved: 2019-05-17

source: Monarch Disease Ontology release 2018-06-29
stated in qid: Q55345445
retrieved: 2018-07-03

source: Disease Ontology
stated in qid: Q5282129
retrieved: 2020-11-29

source: UniProt
stated in qid: Q905695
retrieved: 2019-08-13

source: Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease
stated in qid: Q34083035

wikidata id: Q3338664
domain: designated_intractable_rare_disease
level: standard
html url: https://4ort.xyz/entity/adult-onset-basal-ganglia-disease
markdown url: https://4ort.xyz/entity/adult-onset-basal-ganglia-disease.md
facts url summary: https://4ort.xyz/entity/adult-onset-basal-ganglia-disease/facts.json
facts url standard: https://4ort.xyz/entity/adult-onset-basal-ganglia-disease/facts.json
facts url full: https://4ort.xyz/entity/adult-onset-basal-ganglia-disease/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-02T18:06:23.857554Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-04-10T23:57:50.680641+00:00Z