multisystemic smooth muscle dysfunction syndrome
type: Thing
description: medical condition
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: central nervous system and retinal vascular disease
additional property: PropertyValue
  property ID: P279
  value: rare disease with thoracic aortic aneurysm and aortic dissection
additional property: PropertyValue
  property ID: P279
  value: rare disease involving intestinal motility
additional property: PropertyValue
  property ID: P492
  value: 613834
additional property: PropertyValue
  property ID: P1550
  value: 404463
additional property: PropertyValue
  property ID: P2293
  value: ACTA2
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_404463
additional property: PropertyValue
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  value: C3151201
additional property: PropertyValue
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additional property: PropertyValue
  property ID: P5270
  value: MONDO_0013452
additional property: PropertyValue
  property ID: P11430
  value: DI-03109
confidence:
  popularity graph score:
    score: 0.0
    score pct: 0
    tier: long_tail
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 3
      unique citations norm: 0.001
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 3
  monthly pageviews: 0
  yearly pageviews: 32
  pageview trend:
    m: 2026-06
    v: 27
  pageview trend:
    m: 2026-05
    v: 5
  tier: long_tail
claims:
  P31:
    value: Q929833
    source count: 0
    confidence: 0.0
    value label: rare disease
  P31:
    value: Q112193867
    source count: 0
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    value label: class of disease
  P279:
    value: Q55788489
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    value label: central nervous system and retinal vascular disease
  P279:
    value: Q55786976
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    confidence: 0.2
    value label: rare disease with thoracic aortic aneurysm and aortic dissection
  P279:
    value: Q55785311
    source count: 1
    confidence: 0.2
    value label: rare disease involving intestinal motility
  P279:
    value: Q55785523
    source count: 1
    confidence: 0.2
    value label: rare genetic urogenital disease
  P279:
    value: Q55785839
    source count: 1
    confidence: 0.2
    value label: genetic central nervous system and retinal vascular disease
  P492:
    value: 613834
    source count: 1
    confidence: 0.2
  P1550:
    value: 404463
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  P2293:
    value: Q17709258
    source count: 2
    confidence: 0.4
    value label: ACTA2
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_404463
    source count: 0
    confidence: 0.0
  P2892:
    value: C3151201
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  P4229:
    value: I73.8
    source count: 1
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  P4317:
    value: 12811
    source count: 1
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  P5270:
    value: MONDO_0013452
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-03109
    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: De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
  stated in qid: Q55670541
meta:
  wikidata id: Q55784046
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/multisystemic-smooth-muscle-dysfunction-syndrome
  markdown url: https://4ort.xyz/entity/multisystemic-smooth-muscle-dysfunction-syndrome.md
  facts url summary: https://4ort.xyz/entity/multisystemic-smooth-muscle-dysfunction-syndrome/facts.json
  facts url standard: https://4ort.xyz/entity/multisystemic-smooth-muscle-dysfunction-syndrome/facts.json
  facts url full: https://4ort.xyz/entity/multisystemic-smooth-muscle-dysfunction-syndrome/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-23T11:46:21.775735Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:02:10.524198+00:00Z