blepharophimosis, ptosis, and epicanthus inversus syndrome
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: autosomal dominant disease
additional property: PropertyValue
  property ID: P279
  value: blepharophimosis
additional property: PropertyValue
  property ID: P279
  value: congenital ptosis
additional property: PropertyValue
  property ID: P486
  value: C562419
additional property: PropertyValue
  property ID: P492
  value: 110100
additional property: PropertyValue
  property ID: P665
  value: H00826
additional property: PropertyValue
  property ID: P699
  value: DOID:14778
additional property: PropertyValue
  property ID: P1550
  value: 126
additional property: PropertyValue
  property ID: P2293
  value: FOXL2
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_14778
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:14778
additional property: PropertyValue
  property ID: P2892
  value: C0220663
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0007201
additional property: PropertyValue
  property ID: P7807
  value: 1374618555
additional property: PropertyValue
  property ID: P11430
  value: DI-01287
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: 31
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 6
  monthly pageviews: 31
  yearly pageviews: 120
  pageview trend:
    m: 2026-08
    v: 31
  pageview trend:
    m: 2026-07
    v: 56
  pageview trend:
    m: 2026-06
    v: 20
  pageview trend:
    m: 2026-05
    v: 13
  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: Q18553439
    source count: 1
    confidence: 0.2
    value label: autosomal dominant disease
  P279:
    value: Q883850
    source count: 2
    confidence: 0.4
    value label: blepharophimosis
  P279:
    value: Q18966140
    source count: 0
    confidence: 0.0
    value label: congenital ptosis
  P279:
    value: Q179630
    source count: 1
    confidence: 0.2
    value label: syndrome
  P279:
    value: Q18553442
    source count: 1
    confidence: 0.2
    value label: autosomal genetic disease
  P486:
    value: C562419
    source count: 1
    confidence: 0.2
  P492:
    value: 110100
    source count: 1
    confidence: 0.2
  P665:
    value: H00826
    source count: 0
    confidence: 0.0
  P699:
    value: DOID:14778
    source count: 1
    confidence: 0.2
  P1550:
    value: 126
    source count: 0
    confidence: 0.0
  P2293:
    value: Q5469818
    source count: 2
    confidence: 0.4
    value label: FOXL2
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_14778
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:14778
    source count: 1
    confidence: 0.2
  P2892:
    value: C0220663
    source count: 1
    confidence: 0.2
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0007201
    source count: 0
    confidence: 0.0
  P7807:
    value: 1374618555
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-01287
    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: 2019-05-15
citations:
  source: Wakayama Symposium: Notch-FoxL2-α-SMA axis in eyelid levator muscle development and congenital blepharophimosis.
  stated in qid: Q36390088
citations:
  source: The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types
  stated in qid: Q35203221
citations:
  source: The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
  stated in qid: Q24290819
meta:
  wikidata id: Q18554819
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome
  markdown url: https://4ort.xyz/entity/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome.md
  facts url summary: https://4ort.xyz/entity/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/facts.json
  facts url standard: https://4ort.xyz/entity/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/facts.json
  facts url full: https://4ort.xyz/entity/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-05T08:34:00.390798Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T13:47:05.302907+00:00Z