platelet-type bleeding disorder 15
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: inherited blood coagulation disease
additional property: PropertyValue
  property ID: P279
  value: blood platelet disease
additional property: PropertyValue
  property ID: P279
  value: autosomal dominant disease
additional property: PropertyValue
  property ID: P492
  value: 615193
additional property: PropertyValue
  property ID: P492
  value: 615193
additional property: PropertyValue
  property ID: P699
  value: DOID:0111053
additional property: PropertyValue
  property ID: P780
  value: bleeding
additional property: PropertyValue
  property ID: P2293
  value: ACTN1
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0111053
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0111053
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_140957
additional property: PropertyValue
  property ID: P2892
  value: C3554663
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0014078
additional property: PropertyValue
  property ID: P11430
  value: DI-03753
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 8
      unique citations norm: 0.003
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 8
  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: Q18555031
    source count: 1
    confidence: 0.2
    value label: inherited blood coagulation disease
  P279:
    value: Q2429620
    source count: 1
    confidence: 0.2
    value label: blood platelet disease
  P279:
    value: Q18553439
    source count: 1
    confidence: 0.2
    value label: autosomal dominant disease
  P492:
    value: 615193
    source count: 1
    confidence: 0.2
  P492:
    value: 615193
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0111053
    source count: 1
    confidence: 0.2
  P780:
    value: Q166019
    source count: 1
    confidence: 0.2
    value label: bleeding
  P2293:
    value: Q4676901
    source count: 5
    confidence: 1.0
    value label: ACTN1
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0111053
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0111053
    source count: 1
    confidence: 0.2
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_140957
    source count: 0
    confidence: 0.0
  P2892:
    value: C3554663
    source count: 1
    confidence: 0.2
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0014078
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-03753
    source count: 0
    confidence: 0.0
citations:
  source: ClinGen
  stated in qid: Q64403342
  retrieved: 2020-12-08
citations:
  source: ClinGen
  stated in qid: Q64403342
  retrieved: 2022-01-25
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: 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: ACTN1 mutations cause congenital macrothrombocytopenia
  stated in qid: Q24319165
meta:
  wikidata id: Q32146562
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/platelet-type-bleeding-disorder-15
  markdown url: https://4ort.xyz/entity/platelet-type-bleeding-disorder-15.md
  facts url summary: https://4ort.xyz/entity/platelet-type-bleeding-disorder-15/facts.json
  facts url standard: https://4ort.xyz/entity/platelet-type-bleeding-disorder-15/facts.json
  facts url full: https://4ort.xyz/entity/platelet-type-bleeding-disorder-15/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-23T21:51:40.576817Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:00:57.859042+00:00Z