gerodermia osteodysplastica
type: Thing
description: human disease
additional property: PropertyValue
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  value: developmental defect during embryogenesis
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confidence:
  popularity graph score:
    score: 0.005
    score pct: 1
    tier: established
    components:
      sitelinks: 5
      sitelinks norm: 0.012
      unique citations: 7
      unique citations norm: 0.003
      monthly pageviews: 81
      monthly pageviews norm: 0.0
  sitelinks: 5
  unique citations: 7
  monthly pageviews: 81
  yearly pageviews: 112
  pageview trend:
    m: 2026-08
    v: 81
  pageview trend:
    m: 2026-07
    v: 9
  pageview trend:
    m: 2026-06
    v: 6
  pageview trend:
    m: 2026-05
    v: 5
  pageview trend:
    m: 2026-04
    v: 11
  popularity:
    sitelinks: 5
    max: 423
    pct: 1.2
  tier: established
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    value label: dwarfism
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    value label: primary bone dysplasia with decreased bone density
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    value label: syndrome
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    value label: autosomal recessive disease
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    value: Gerodermia osteodysplastica
    source count: 0
    confidence: 0.0
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    confidence: 0.4
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value: 2078
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confidence: 0.4

value: 759.89
source count: 1
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value: Q1071953
source count: 0
confidence: 0.0
value label: medical genetics

value: Q18048627
source count: 3
confidence: 0.6
value label: GORAB

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source count: 0
confidence: 0.0

value: http://purl.obolibrary.org/obo/DOID_0111266
source count: 1
confidence: 0.2

value: http://identifiers.org/doid/DOID:0111266
source count: 1
confidence: 0.2

value: C0432255
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confidence: 0.4

value: 10040888
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value: Q82.8
source count: 1
confidence: 0.2

value: 413
source count: 2
confidence: 0.4

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

value: MONDO_0009271
source count: 0
confidence: 0.0

value: 2777859874
source count: 0
confidence: 0.0

value: 2909225613
source count: 0
confidence: 0.0

value: 1523755506
source count: 0
confidence: 0.0

value: Gerodermia osteodysplastica
source count: 0
confidence: 0.0

value: DI-00509
source count: 0
confidence: 0.0

source: Open Targets Platform
stated in qid: Q113138000
retrieved: 2023-08-24

source: Identifiers.org
stated in qid: Q16335166

source: Monarch Disease Ontology release 2018-06-29
stated in qid: Q55345445
retrieved: 2018-07-28

source: Disease Ontology
stated in qid: Q5282129
retrieved: 2020-11-25

source: UniProt
stated in qid: Q905695
retrieved: 2019-08-13

source: Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
stated in qid: Q24606491

wikidata id: Q5552374
domain: developmental_defect_during_embryogenesis
level: standard
html url: https://4ort.xyz/entity/gerodermia-osteodysplastica
markdown url: https://4ort.xyz/entity/gerodermia-osteodysplastica.md
facts url summary: https://4ort.xyz/entity/gerodermia-osteodysplastica/facts.json
facts url standard: https://4ort.xyz/entity/gerodermia-osteodysplastica/facts.json
facts url full: https://4ort.xyz/entity/gerodermia-osteodysplastica/facts.json
data source: Wikidata (CC0 / public domain)
license: https://creativecommons.org/publicdomain/zero/1.0/
api version: v1
served at: 2026-08-24T07:38:04.899043Z
entity updated at: 2026-05-03T21:19:00.258443+00:00Z
entity created at: 2026-04-10T23:37:30.948873+00:00Z