acroosteolysis-keloid-like lesions-premature aging syndrome
type: Thing
description: human disease
additional property: PropertyValue
  property ID: P31
  value: developmental defect during embryogenesis
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: progeroid syndrome
additional property: PropertyValue
  property ID: P486
  value: C536653
additional property: PropertyValue
  property ID: P492
  value: 601812
additional property: PropertyValue
  property ID: P1550
  value: 363665
additional property: PropertyValue
  property ID: P2293
  value: PDGFRB
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_363665
additional property: PropertyValue
  property ID: P2892
  value: C1866182
additional property: PropertyValue
  property ID: P4229
  value: E34.8
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0011150
additional property: PropertyValue
  property ID: P11430
  value: DI-04566
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: long_tail
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 4
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 4
  monthly pageviews: 0
  yearly pageviews: 0
  tier: long_tail
claims:
  P31:
    value: Q55788864
    source count: 1
    confidence: 0.2
    value label: developmental defect during embryogenesis
  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: Q6139748
    source count: 1
    confidence: 0.2
    value label: progeroid syndrome
  P486:
    value: C536653
    source count: 1
    confidence: 0.2
  P492:
    value: 601812
    source count: 1
    confidence: 0.2
  P1550:
    value: 363665
    source count: 1
    confidence: 0.2
  P2293:
    value: Q18030425
    source count: 3
    confidence: 0.6
    value label: PDGFRB
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_363665
    source count: 0
    confidence: 0.0
  P2892:
    value: C1866182
    source count: 1
    confidence: 0.2
  P4229:
    value: E34.8
    source count: 1
    confidence: 0.2
  P5270:
    value: MONDO_0011150
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-04566
    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
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: A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
  stated in qid: Q36045072
meta:
  wikidata id: Q55783230
  domain: developmental_defect_during_embryogenesis
  level: standard
  html url: https://4ort.xyz/entity/acroosteolysis-keloid-like-lesions-premature-aging-syndrome
  markdown url: https://4ort.xyz/entity/acroosteolysis-keloid-like-lesions-premature-aging-syndrome.md
  facts url summary: https://4ort.xyz/entity/acroosteolysis-keloid-like-lesions-premature-aging-syndrome/facts.json
  facts url standard: https://4ort.xyz/entity/acroosteolysis-keloid-like-lesions-premature-aging-syndrome/facts.json
  facts url full: https://4ort.xyz/entity/acroosteolysis-keloid-like-lesions-premature-aging-syndrome/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-02T17:03:19.766678Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:44:24.103005+00:00Z