neonatal diabetes mellitus with congenital hypothyroidism
type: Thing
description: Human disease
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: neonatal diabetes mellitus
additional property: PropertyValue
  property ID: P279
  value: permanent neonatal diabetes mellitus
additional property: PropertyValue
  property ID: P279
  value: congenital hypothyroidism
additional property: PropertyValue
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  value: GLIS3
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additional property: PropertyValue
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additional property: PropertyValue
  property ID: P11430
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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: 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: Q2898645
    source count: 2
    confidence: 0.4
    value label: neonatal diabetes mellitus
  P279:
    value: Q17143640
    source count: 0
    confidence: 0.0
    value label: permanent neonatal diabetes mellitus
  P279:
    value: Q531012
    source count: 0
    confidence: 0.0
    value label: congenital hypothyroidism
  P279:
    value: Q55788849
    source count: 1
    confidence: 0.2
    value label: familial cystic renal disease
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    value: Q10267817
    source count: 1
    confidence: 0.2
    value label: autosomal recessive disease
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    value: C565705
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  P492:
    value: 610199
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    confidence: 0.2
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    confidence: 0.6
    value label: GLIS3
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    value: http://purl.obolibrary.org/obo/DOID_0060638
    source count: 1
    confidence: 0.2
  P2888:
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  P2892:
    value: C1857775
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    value: C4510367
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    value label: WikiProject Medicine
  P5270:
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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: Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.
  stated in qid: Q48087598
meta:
  wikidata id: Q27674736
  domain: rare_disease
  level: standard
  html url: https://4ort.xyz/entity/neonatal-diabetes-mellitus-with-congenital-hypothyroidism
  markdown url: https://4ort.xyz/entity/neonatal-diabetes-mellitus-with-congenital-hypothyroidism.md
  facts url summary: https://4ort.xyz/entity/neonatal-diabetes-mellitus-with-congenital-hypothyroidism/facts.json
  facts url standard: https://4ort.xyz/entity/neonatal-diabetes-mellitus-with-congenital-hypothyroidism/facts.json
  facts url full: https://4ort.xyz/entity/neonatal-diabetes-mellitus-with-congenital-hypothyroidism/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-07T02:29:44.774073Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T14:26:33.230374+00:00Z