multiple congenital anomalies-hypotonia-seizures syndrome 3
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
  property ID: P31
  value: class of disease
additional property: PropertyValue
  property ID: P279
  value: Slender bone dysplasia
additional property: PropertyValue
  property ID: P279
  value: multiple congenital anomalies/dysmorphic syndrome-intellectual disability
additional property: PropertyValue
  property ID: P279
  value: genetic syndromic intellectual disability
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  value: 615398
additional property: PropertyValue
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additional property: PropertyValue
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additional property: PropertyValue
  property ID: P2293
  value: PIGT
additional property: PropertyValue
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additional property: PropertyValue
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  property ID: P5008
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additional property: PropertyValue
  property ID: P5270
  value: MONDO_0014165
additional property: PropertyValue
  property ID: P11430
  value: DI-03879
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 7
      unique citations norm: 0.003
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 7
  monthly pageviews: 0
  yearly pageviews: 0
  tier: established
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
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    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q55788811
    source count: 1
    confidence: 0.2
    value label: Slender bone dysplasia
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    value: Q55785288
    source count: 1
    confidence: 0.2
    value label: multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  P279:
    value: Q55785866
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    confidence: 0.2
    value label: genetic syndromic intellectual disability
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    value: Q61967976
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    confidence: 0.2
    value label: multiple congenital anomalies-hypotonia-seizures syndrome
  P279:
    value: Q10267817
    source count: 1
    confidence: 0.2
    value label: autosomal recessive disease
  P492:
    value: 615398
    source count: 1
    confidence: 0.2
  P699:
    value: DOID:0080140
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  P1550:
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    confidence: 0.6
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    value: http://purl.obolibrary.org/obo/DOID_0080140
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0080140
    source count: 1
    confidence: 0.2
  P2892:
    value: C3809356
    source count: 1
    confidence: 0.2
  P2892:
    value: C4749459
    source count: 1
    confidence: 0.2
  P4229:
    value: Q87.8
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  P5008:
    value: Q4099686
    source count: 0
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    value label: WikiProject Medicine
  P5270:
    value: MONDO_0014165
    source count: 0
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  P11430:
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    source count: 0
    confidence: 0.0
citations:
  source: Open Targets Platform
  stated in qid: Q113138000
  retrieved: 2023-08-24
citations:
  source: Identifiers.org
  stated in qid: Q16335166
citations:
  source: Monarch Disease Ontology release 2018-06-29
  stated in qid: Q55345445
  retrieved: 2018-07-28
citations:
  source: Disease Ontology
  stated in qid: Q5282129
  retrieved: 2020-11-30
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: A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
  stated in qid: Q44477174
meta:
  wikidata id: Q26492833
  domain: developmental_defect_during_embryogenesis
  level: standard
  html url: https://4ort.xyz/entity/multiple-congenital-anomalies-hypotonia-seizures-syndrome-3
  markdown url: https://4ort.xyz/entity/multiple-congenital-anomalies-hypotonia-seizures-syndrome-3.md
  facts url summary: https://4ort.xyz/entity/multiple-congenital-anomalies-hypotonia-seizures-syndrome-3/facts.json
  facts url standard: https://4ort.xyz/entity/multiple-congenital-anomalies-hypotonia-seizures-syndrome-3/facts.json
  facts url full: https://4ort.xyz/entity/multiple-congenital-anomalies-hypotonia-seizures-syndrome-3/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-02T06:32:19.566430Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:58:18.224610+00:00Z