pseudo-TORCH syndrome
type: Thing
description: autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria
additional property: PropertyValue
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  value: rare disease
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  value: class of disease
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  property ID: P279
  value: autosomal recessive disease
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  value: genetic nervous system disorder
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  value: syndrome
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additional property: PropertyValue
  property ID: P11430
  value: DI-02925
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 6
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 6
  monthly pageviews: 0
  yearly pageviews: 0
  tier: established
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: Q10267817
    source count: 2
    confidence: 0.4
    value label: autosomal recessive disease
  P279:
    value: Q55788492
    source count: 1
    confidence: 0.2
    value label: genetic nervous system disorder
  P279:
    value: Q179630
    source count: 1
    confidence: 0.2
    value label: syndrome
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    value: 251290
    source count: 1
    confidence: 0.2
  P665:
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    source count: 0
    confidence: 0.0
  P699:
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    source count: 1
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  P1550:
    value: 1229
    source count: 1
    confidence: 0.2
  P2293:
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    source count: 3
    confidence: 0.6
    value label: OCLN
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0050656
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0050656
    source count: 1
    confidence: 0.2
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_1229
    source count: 0
    confidence: 0.0
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    value: C3489725
    source count: 1
    confidence: 0.2
  P2892:
    value: C2931662
    source count: 1
    confidence: 0.2
  P4229:
    value: Q87.8
    source count: 1
    confidence: 0.2
  P4317:
    value: 12426
    source count: 0
    confidence: 0.0
  P4317:
    value: 815
    source count: 0
    confidence: 0.0
  P5008:
    value: Q4099686
    source count: 0
    confidence: 0.0
    value label: WikiProject Medicine
  P5270:
    value: MONDO_0009626
    source count: 0
    confidence: 0.0
  P7807:
    value: 780151108
    source count: 0
    confidence: 0.0
  P11430:
    value: DI-02925
    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: Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria
  stated in qid: Q34104062

wikidata id: Q9390596
domain: rare_disease
level: standard
html url: https://4ort.xyz/entity/pseudo-torch-syndrome
markdown url: https://4ort.xyz/entity/pseudo-torch-syndrome.md
facts url summary: https://4ort.xyz/entity/pseudo-torch-syndrome/facts.json
facts url standard: https://4ort.xyz/entity/pseudo-torch-syndrome/facts.json
facts url full: https://4ort.xyz/entity/pseudo-torch-syndrome/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-24T08:27:27.081669Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-05-03T14:37:40.061457+00:00Z