familial hemophagocytic lymphohistiocytosis 5
type: Thing
description: hemophagocytic lymphohistiocytosis that has material basis in a mutation of STXBP2 on chromosome 19p13.2
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: familial hemophagocytic lymphohistiocytosis
additional property: PropertyValue
  property ID: P279
  value: genetic disease
additional property: PropertyValue
  property ID: P279
  value: monogenic disease
additional property: PropertyValue
  property ID: P486
  value: C567752
additional property: PropertyValue
  property ID: P492
  value: 613101
additional property: PropertyValue
  property ID: P492
  value: 613101
additional property: PropertyValue
  property ID: P699
  value: DOID:0110925
additional property: PropertyValue
  property ID: P2293
  value: STXBP2
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0110925
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0110925
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_540
additional property: PropertyValue
  property ID: P2892
  value: C2751293
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0013135
additional property: PropertyValue
  property ID: P11430
  value: DI-02796
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 5
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 5
  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: Q3269479
    source count: 0
    confidence: 0.0
    value label: familial hemophagocytic lymphohistiocytosis
  P279:
    value: Q200779
    source count: 1
    confidence: 0.2
    value label: genetic disease
  P279:
    value: Q1225194
    source count: 1
    confidence: 0.2
    value label: monogenic disease
  P279:
    value: Q1642170
    source count: 1
    confidence: 0.2
    value label: hemophagocytic lymphohistiocytosis
  P486:
    value: C567752
    source count: 1
    confidence: 0.2
  P492:
    value: 613101
    source count: 1
    confidence: 0.2
  P492:
    value: 613101
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0110925
    source count: 1
    confidence: 0.2
  P2293:
    value: Q18031777
    source count: 2
    confidence: 0.4
    value label: STXBP2
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0110925
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0110925
    source count: 1
    confidence: 0.2
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_540
    source count: 0
    confidence: 0.0
  P2892:
    value: C2751293
    source count: 1
    confidence: 0.2
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0013135
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-02796
    source count: 0
    confidence: 0.0
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2019-05-15
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-08-07
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
  stated in qid: Q24321783
meta:
  wikidata id: Q32144802
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-5
  markdown url: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-5.md
  facts url summary: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-5/facts.json
  facts url standard: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-5/facts.json
  facts url full: https://4ort.xyz/entity/familial-hemophagocytic-lymphohistiocytosis-5/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-08T18:27:39.076798Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:59:26.540940+00:00Z