campomelic dysplasia
type: Thing
alternate name: Acampomelic Campomelic Dysplasia
description: osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur
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  value: osteochondrodysplasia
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  value: bent bone dysplasia
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  value: autosomal dominant disease
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  value: Campomelic dysplasia
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confidence:
  popularity graph score:
    score: 0.009
    score pct: 1
    tier: established
    components:
      sitelinks: 10
      sitelinks norm: 0.024
      unique citations: 7
      unique citations norm: 0.003
      monthly pageviews: 134
      monthly pageviews norm: 0.0
  sitelinks: 10
  unique citations: 7
  monthly pageviews: 134
  yearly pageviews: 266
  pageview trend:
    m: 2026-08
    v: 134
  pageview trend:
    m: 2026-07
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  pageview trend:
    m: 2026-06
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  popularity:
    sitelinks: 10
    max: 423
    pct: 2.4
  tier: established
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    value label: class of disease
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    value label: osteochondrodysplasia
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    value label: bent bone dysplasia
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    value label: autosomal dominant disease
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source count: 0
confidence: 0.0

value: DOID:0050463
source count: 1
confidence: 0.2

value: 140
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confidence: 0.2

value: C84609
source count: 1
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value: C120205
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value: Q1071953
source count: 0
confidence: 0.0
value label: medical genetics

value: Q18031654
source count: 3
confidence: 0.6
value label: SOX9

value: 03674371n
source count: 1
confidence: 0.2

value: http://purl.obolibrary.org/obo/DOID_0050463
source count: 1
confidence: 0.2

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source count: 1
confidence: 0.2

value: C1861922
source count: 1
confidence: 0.2

value: C1861923
source count: 1
confidence: 0.2

value: 10027
source count: 1
confidence: 0.2

value: Q4099686
source count: 0
confidence: 0.0
value label: WikiProject Medicine

value: MONDO_0007251
source count: 0
confidence: 0.0

value: 2779572493
source count: 0
confidence: 0.0

value: campomelic-dysplasia
source count: 0
confidence: 0.0

value: Campomelic dysplasia
source count: 0
confidence: 0.0

value: lgbta:Campomelic_Dysplasia
source count: 0
confidence: 0.0

value: DI-01311
source count: 0
confidence: 0.0

source: Identifiers.org
stated in qid: Q16335166

source: Freebase Data Dumps
stated in qid: Q15241312
pub year: 2013

source: Disease Ontology
stated in qid: Q5282129
retrieved: 2020-11-30

source: Familial acampomelic form of campomelic dysplasia caused by a 960 kb deletion upstream of SOX9
stated in qid: Q55670713

source: Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
stated in qid: Q28243215

source: Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
stated in qid: Q28242642

source: BabelNet
stated in qid: Q4837690

wikidata id: Q1031536
domain: rare_disease
level: standard
html url: https://4ort.xyz/entity/campomelic-dysplasia
markdown url: https://4ort.xyz/entity/campomelic-dysplasia.md
facts url summary: https://4ort.xyz/entity/campomelic-dysplasia/facts.json
facts url standard: https://4ort.xyz/entity/campomelic-dysplasia/facts.json
facts url full: https://4ort.xyz/entity/campomelic-dysplasia/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-24T15:28:20.169312Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-04-10T23:35:22.177874+00:00Z