holoprosencephaly 2
type: Thing
description: holoprosencephaly that has material basis in mutation in the homeobox-containing SIX3 gene on chromosome 2p21
additional property: PropertyValue
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: holoprosencephaly
additional property: PropertyValue
  property ID: P279
  value: genetic disease
additional property: PropertyValue
  property ID: P279
  value: autosomal dominant disease
additional property: PropertyValue
  property ID: P486
  value: C563579
additional property: PropertyValue
  property ID: P492
  value: 157170
additional property: PropertyValue
  property ID: P699
  value: DOID:0110872
additional property: PropertyValue
  property ID: P1748
  value: C74995
additional property: PropertyValue
  property ID: P2293
  value: SIX3
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0110872
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0110872
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_2162
additional property: PropertyValue
  property ID: P2892
  value: C1834877
additional property: PropertyValue
  property ID: P5008
  value: WikiProject Medicine
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0007999
additional property: PropertyValue
  property ID: P11430
  value: DI-00566
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: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 4
  monthly pageviews: 0
  yearly pageviews: 0
  tier: long_tail
claims:
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q1459821
    source count: 1
    confidence: 0.2
    value label: holoprosencephaly
  P279:
    value: Q200779
    source count: 1
    confidence: 0.2
    value label: genetic disease
  P279:
    value: Q18553439
    source count: 1
    confidence: 0.2
    value label: autosomal dominant disease
  P486:
    value: C563579
    source count: 1
    confidence: 0.2
  P492:
    value: 157170
    source count: 2
    confidence: 0.4
  P699:
    value: DOID:0110872
    source count: 1
    confidence: 0.2
  P1748:
    value: C74995
    source count: 1
    confidence: 0.2
  P2293:
    value: Q18031510
    source count: 1
    confidence: 0.2
    value label: SIX3
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0110872
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0110872
    source count: 1
    confidence: 0.2
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_2162
    source count: 0
    confidence: 0.0
  P2892:
    value: C1834877
    source count: 1
    confidence: 0.2
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0007999
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-00566
    source count: 0
    confidence: 0.0
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2020-11-30
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-08-04
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
meta:
  wikidata id: Q32144127
  domain: class_of_disease
  level: standard
  html url: https://4ort.xyz/entity/holoprosencephaly-2
  markdown url: https://4ort.xyz/entity/holoprosencephaly-2.md
  facts url summary: https://4ort.xyz/entity/holoprosencephaly-2/facts.json
  facts url standard: https://4ort.xyz/entity/holoprosencephaly-2/facts.json
  facts url full: https://4ort.xyz/entity/holoprosencephaly-2/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-31T21:31:22.046904Z
  entity updated at: 2026-05-03T22:54:58.348740+00:00Z
  entity created at: 2026-05-03T15:27:53.076258+00:00Z