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Pena-Shokeir sendromu II · Vinony

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Autosomal recessive disorders
Pena-Shokeir sendromu II

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EntityQ914389· pop 18· linked from 155 articles

Pena-Shokeir sendromu II

Also known as Neill-Dingwall syndrome, Kenny Syndrome, Neill-Dingwall syndrome, Cockayne's syndrome, Hutchinson–Gilford progeria syndrome, HGPS

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Research

1,661 papers

Xeroderma pigmentosum-Cockayne syndrome complex.Orphanet journal of rare diseases · 2017
[Cockayne Syndrome].Brain and nerve = Shinkei kenkyu no shinpo · 2019
Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?Aging cell · 2025
Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation.Nature communications · 2024
Cockayne Syndrome Group B (CSB): The Regulatory Framework Governing the Multifunctional Protein and Its Plausible Role in Cancer.Cells · 2021

Wikidata facts

Image: 3-patients-with-cockayne-syndrome.webp

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Connections

trichothiodystrophy syndromes

congenital disorder

Categories

Autosomal recessive disorders Diseases named after discoverers DNA replication and repair-deficiency disorders Genodermatoses Neurological disorders Progeroid syndromes Rare diseases Syndromes affecting the nervous system

Sources

wikipedia.externallinksexternallink

NCI Thesaurus ID: C9460
exact match: www.orpha.net/ORDO/Orphanet_90324
ICD-9-CM: 759.89
external data available at URL: www.nanbyou.or.jp/entry/4435
Commons category: Cockayne syndrome

Sources (6)

wikidata.org
platform.opentargets.org
ebi.ac.uk
ddrare.nibiohn.go.jp
en.wikipedia.org
docs.openalex.org

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via Wikidata sitelinks · CC0

progeroid syndrome

Entity

Online Mendelian Inheritance in Man

ataxia telangiectasia

pyrimidine dimers

rapadilino syndrome

corneal opacity

deoxyribonucleic acid

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What links here155 pages

xeroderma pigmentosum

ERCC excision repair 3, TFIIH core complex helicase subunit

Donohue syndrome

ablepharon macrostomia syndrome

Pierre Robin syndrome

Proteus syndrome

Wiedemann-Rautenstrauch syndrome

human chromosome 10

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Baller-Gerold syndrome

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fibular hemimelia

VACTERL association

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Edward Alfred Cockayne