autosomal recessive severe congenital neutropenia due to CSF3R deficiency
type: Thing
description: human disease
additional property: PropertyValue
  property ID: P31
  value: rare disease
additional property: PropertyValue
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  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: severe congenital neutropenia
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additional property: PropertyValue
  property ID: P1550
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additional property: PropertyValue
  property ID: P2293
  value: CSF3R
additional property: PropertyValue
  property ID: P2888
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additional property: PropertyValue
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additional property: PropertyValue
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additional property: PropertyValue
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confidence:
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    score: 0.0
    score pct: 0
    tier: long_tail
    components:
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      unique citations: 3
      unique citations norm: 0.001
      monthly pageviews: 0
      monthly pageviews norm: 0.0
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  unique citations: 3
  monthly pageviews: 0
  yearly pageviews: 0
  tier: long_tail
claims:
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    value: Q929833
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    value label: rare disease
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    value: Q112193867
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    value label: class of disease
  P279:
    value: Q18553325
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    value label: severe congenital neutropenia
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    value: 617014
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  P1550:
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  P2293:
    value: Q14908143
    source count: 2
    confidence: 0.4
    value label: CSF3R
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_420702
    source count: 0
    confidence: 0.0
  P2892:
    value: C4310764
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  P4229:
    value: D70
    source count: 1
    confidence: 0.2
  P5270:
    value: MONDO_0014865
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-04754
    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: Inherited biallelic CSF3R mutations in severe congenital neutropenia.
  stated in qid: Q33749664
meta:
  wikidata id: Q55785069
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/autosomal-recessive-severe-congenital-neutropenia-due-to-csf3r-deficiency
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  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-11T21:44:03.540308Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T15:28:58.227882+00:00Z