Eiken syndrome
type: Thing
description: a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification; it has been described in 6 members of a unique consanguineous family
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: primary bone dysplasia with defective bone mineralization
additional property: PropertyValue
  property ID: P279
  value: multiple epiphyseal dysplasia and pseudoachondroplasia
additional property: PropertyValue
  property ID: P279
  value: bone development disease
additional property: PropertyValue
  property ID: P486
  value: C564010
additional property: PropertyValue
  property ID: P492
  value: 600002
additional property: PropertyValue
  property ID: P646
  value: /m/0y4xxh_
additional property: PropertyValue
  property ID: P665
  value: H00495
additional property: PropertyValue
  property ID: P699
  value: DOID:0111732
additional property: PropertyValue
  property ID: P1550
  value: 79106
additional property: PropertyValue
  property ID: P2293
  value: PTH1R
additional property: PropertyValue
  property ID: P2888
  value: http://www.orpha.net/ORDO/Orphanet_79106
additional property: PropertyValue
  property ID: P2888
  value: http://purl.obolibrary.org/obo/DOID_0111732
additional property: PropertyValue
  property ID: P2888
  value: http://identifiers.org/doid/DOID:0111732
additional property: PropertyValue
  property ID: P2892
  value: C1838779
additional property: PropertyValue
  property ID: P5270
  value: MONDO_0010803
additional property: PropertyValue
  property ID: P5806
  value: 720863002
additional property: PropertyValue
  property ID: P11430
  value: DI-01518
confidence:
  popularity graph score:
    score: 0.001
    score pct: 0
    tier: established
    components:
      sitelinks: 0
      sitelinks norm: 0.0
      unique citations: 5
      unique citations norm: 0.002
      monthly pageviews: 0
      monthly pageviews norm: 0.0
  sitelinks: 0
  unique citations: 5
  monthly pageviews: 0
  yearly pageviews: 23
  pageview trend:
    m: 2026-06
    v: 19
  pageview trend:
    m: 2026-05
    v: 4
  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
  P31:
    value: Q112193867
    source count: 0
    confidence: 0.0
    value label: class of disease
  P279:
    value: Q55788817
    source count: 1
    confidence: 0.2
    value label: primary bone dysplasia with defective bone mineralization
  P279:
    value: Q55788804
    source count: 1
    confidence: 0.2
    value label: multiple epiphyseal dysplasia and pseudoachondroplasia
  P279:
    value: Q18553737
    source count: 1
    confidence: 0.2
    value label: bone development disease
  P279:
    value: Q10267817
    source count: 1
    confidence: 0.2
    value label: autosomal recessive disease
  P486:
    value: C564010
    source count: 1
    confidence: 0.2
  P492:
    value: 600002
    source count: 1
    confidence: 0.2
  P646:
    value: /m/0y4xxh_
    source count: 0
    confidence: 0.0
  P665:
    value: H00495
    source count: 0
    confidence: 0.0
  P699:
    value: DOID:0111732
    source count: 1
    confidence: 0.2
  P1550:
    value: 79106
    source count: 1
    confidence: 0.2
  P2293:
    value: Q18030907
    source count: 2
    confidence: 0.4
    value label: PTH1R
  P2888:
    value: http://www.orpha.net/ORDO/Orphanet_79106
    source count: 0
    confidence: 0.0
  P2888:
    value: http://purl.obolibrary.org/obo/DOID_0111732
    source count: 1
    confidence: 0.2
  P2888:
    value: http://identifiers.org/doid/DOID:0111732
    source count: 1
    confidence: 0.2
  P2892:
    value: C1838779
    source count: 1
    confidence: 0.2
  P5270:
    value: MONDO_0010803
    source count: 0
    confidence: 0.0
  P5806:
    value: 720863002
    source count: 1
    confidence: 0.2
  P11430:
    value: DI-01518
    source count: 0
    confidence: 0.0
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: 2020-11-25
citations:
  source: UniProt
  stated in qid: Q905695
  retrieved: 2019-08-13
citations:
  source: Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
  stated in qid: Q52085977
meta:
  wikidata id: Q17119158
  domain: developmental_defect_during_embryogenesis
  level: standard
  html url: https://4ort.xyz/entity/eiken-syndrome
  markdown url: https://4ort.xyz/entity/eiken-syndrome.md
  facts url summary: https://4ort.xyz/entity/eiken-syndrome/facts.json
  facts url standard: https://4ort.xyz/entity/eiken-syndrome/facts.json
  facts url full: https://4ort.xyz/entity/eiken-syndrome/facts.json
  data source: Wikidata (CC0 / public domain)
  license: https://creativecommons.org/publicdomain/zero/1.0/
  api version: v1
  served at: 2026-08-24T08:53:43.932136Z
  entity updated at: 2026-05-03T21:19:00.258443+00:00Z
  entity created at: 2026-05-03T13:58:13.703778+00:00Z