Baraitser-Winter syndrome
type: Thing
description: Human disease
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confidence:
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    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: 41
      monthly pageviews norm: 0.0
  sitelinks: 0
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  monthly pageviews: 41
  yearly pageviews: 74
  pageview trend:
    m: 2026-08
    v: 41
  pageview trend:
    m: 2026-07
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  pageview trend:
    m: 2026-06
    v: 8
  pageview trend:
    m: 2026-05
    v: 12
  pageview trend:
    m: 2026-05
    v: 5
  tier: established
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value: Q87.0
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value: 5279
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value: Q4099686
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value label: WikiProject Medicine

value: MONDO_0009470
source count: 0
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value: baraitser-winter-syndrome
source count: 0
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value: DI-03416
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confidence: 0.0

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

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

source: Identifiers.org
stated in qid: Q16335166

source: Disease Ontology
stated in qid: Q5282129
retrieved: 2021-11-29

source: Monarch Disease Ontology release 2018-06-29
stated in qid: Q55345445
retrieved: 2018-08-06

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

source: UMLS 2023
stated in qid: Q118645236
retrieved: 2023-06-16

source: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
stated in qid: Q28260677

wikidata id: Q18966102
domain: rare_disease
level: standard
html url: https://4ort.xyz/entity/baraitser-winter-syndrome
markdown url: https://4ort.xyz/entity/baraitser-winter-syndrome.md
facts url summary: https://4ort.xyz/entity/baraitser-winter-syndrome/facts.json
facts url standard: https://4ort.xyz/entity/baraitser-winter-syndrome/facts.json
facts url full: https://4ort.xyz/entity/baraitser-winter-syndrome/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-24T10:34:07.945690Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-05-03T14:56:42.916329+00:00Z