sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
type: Thing
description: human disease
additional property: PropertyValue
  property ID: P31
  value: developmental defect during embryogenesis
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: malformation of the neurenteric canal, spinal cord and column
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  value: 615709
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  value: TBXT
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  value: MONDO_0014314
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  property ID: P11430
  value: DI-04072
confidence:
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    score: 0.001
    score pct: 0
    tier: long_tail
    components:
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      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: Q55788864
    source count: 1
    confidence: 0.2
    value label: developmental defect during embryogenesis
  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: Q55786799
    source count: 1
    confidence: 0.2
    value label: malformation of the neurenteric canal, spinal cord and column
  P492:
    value: 615709
    source count: 1
    confidence: 0.2
  P665:
    value: H02324
    source count: 0
    confidence: 0.0
  P1550:
    value: 397927
    source count: 1
    confidence: 0.2
  P2293:
    value: Q14885879
    source count: 2
    confidence: 0.4
    value label: TBXT
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_397927
    source count: 0
    confidence: 0.0
  P2892:
    value: C3810343
    source count: 1
    confidence: 0.2
  P2892:
    value: C4751569
    source count: 1
    confidence: 0.2
  P4229:
    value: Q87.5
    source count: 1
    confidence: 0.2
  P5270:
    value: MONDO_0014314
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-04072
    source count: 0
    confidence: 0.0
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: UMLS 2023
  stated in qid: Q118645236
  retrieved: 2023-06-16
citations:
  source: Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal
  stated in qid: Q24307966
meta:
  wikidata id: Q55784776
  domain: developmental_defect_during_embryogenesis
  level: standard
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  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-13T11:22:43.359156Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T13:49:28.734932+00:00Z