autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures 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: disease of glomerular basement membrane
additional property: PropertyValue
  property ID: P279
  value: COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
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  value: C567088
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  value: 611773
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additional property: PropertyValue
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  value: 758.89
additional property: PropertyValue
  property ID: P2293
  value: COL4A1
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_73229
additional property: PropertyValue
  property ID: P2892
  value: C2673195
additional property: PropertyValue
  property ID: P4229
  value: I99
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0012726
additional property: PropertyValue
  property ID: P7807
  value: 733821001
additional property: PropertyValue
  property ID: P11430
  value: DI-01710
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: 2
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 4
  monthly pageviews: 2
  yearly pageviews: 7
  pageview trend:
    m: 2026-08
    v: 2
  pageview trend:
    m: 2026-07
    v: 1
  pageview trend:
    m: 2026-06
    v: 1
  pageview trend:
    m: 2026-05
    v: 2
  pageview trend:
    m: 2026-04
    v: 1
  tier: long_tail
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: Q55788834
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    confidence: 0.2
    value label: disease of glomerular basement membrane
  P279:
    value: Q55788340
    source count: 1
    confidence: 0.2
    value label: COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy
  P486:
    value: C567088
    source count: 1
    confidence: 0.2
  P492:
    value: 611773
    source count: 1
    confidence: 0.2
  P665:
    value: H00579
    source count: 0
    confidence: 0.0
  P1550:
    value: 73229
    source count: 1
    confidence: 0.2
  P1692:
    value: 758.89
    source count: 1
    confidence: 0.2
  P2293:
    value: Q5145886
    source count: 3
    confidence: 0.6
    value label: COL4A1
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_73229
    source count: 0
    confidence: 0.0
  P2892:
    value: C2673195
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  P4229:
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    source count: 1
    confidence: 0.2
  P5270:
    value: MONDO_0012726
    source count: 0
    confidence: 0.0
  P7807:
    value: 733821001
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-01710
    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
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: COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps
  stated in qid: Q24305076
meta:
  wikidata id: Q55783837
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/autosomal-dominant-familial-hematuria-retinal-arteriolar-tortuosity-contractures-syndrome
  markdown url: https://4ort.xyz/entity/autosomal-dominant-familial-hematuria-retinal-arteriolar-tortuosity-contractures-syndrome.md
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  facts url standard: https://4ort.xyz/entity/autosomal-dominant-familial-hematuria-retinal-arteriolar-tortuosity-contractures-syndrome/facts.json
  facts url full: https://4ort.xyz/entity/autosomal-dominant-familial-hematuria-retinal-arteriolar-tortuosity-contractures-syndrome/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-14T04:43:04.820725Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T15:28:58.227882+00:00Z