About: Warsaw breakage syndrome

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An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Human disease

Attributes	Values
rdf:type	Item
owl:sameAs	Warsaw breakage syndrome
description	Krankheit (de) Human disease (en) хвороба людини (uk) مرض يصيب الإنسان (ar)
exact match	wds:Q23542366-45848B3B-B3BA-4E44-BA71-071F3B5F920D wds:Q23542366-62F22FF2-D989-47E4-9765-F9F0997AA134 wds:Q23542366-88E39753-9FB6-48AB-A600-274260635DF5
exact match	http://purl.obolibrary.org/obo/DOID_0060535 http://identifiers.org/doid/DOID:0060535 http://www.orpha.net/ORDO/Orphanet_280558
Mondo ID	wds:Q23542366-C5118E1F-A2CD-4F6B-8A53-5BF97F5305D3
Disease Ontology ID	wds:Q23542366-2AFF2C3D-9A57-42F9-977E-2749E5C8F116
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013252
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060535
Mondo ID	MONDO_0013252
Disease Ontology ID	DOID:0060535
rdfs:label	Varsovan oireyhtymä (fi) Warsaw breakage syndrome (en) syndrome de cassure chromosomique de Varsovie (fr)
skos:prefLabel	Varsovan oireyhtymä (fi) Warsaw breakage syndrome (en) syndrome de cassure chromosomique de Varsovie (fr)
name	Varsovan oireyhtymä (fi) Warsaw breakage syndrome (en) syndrome de cassure chromosomique de Varsovie (fr)
instance of	wds:Q23542366-00E7C4A5-6531-43AF-8D6F-FE69C3672186 wds:Q23542366-9A822F3E-C5E1-42F4-9F74-BB49FB4B1229 wds:Q23542366-AF143051-7F3A-48CC-BCFF-D508D9D28312
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q23542366-00E736C3-F006-44C9-9214-7D54848F0942 wds:Q23542366-5D9805B3-E77E-43E3-9021-3F28C097BC22 wds:Q23542366-634CCA89-68C3-40D5-A2A1-569113F58A5B wds:Q23542366-B4892AC3-CDB7-4163-B752-0FE57BECC674 wds:Q23542366-B6190C1B-58ED-4016-91F6-ADCB92B455D0 wds:Q23542366-E0846682-FD73-42F8-AA04-9208C1E970A4 wds:Q23542366-E85F29EE-C655-4991-AE9C-4F5365C40170
subclass of	genetic disease syndrome polymalformative genetic syndrome with increased risk of developing cancer autosomal recessive disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability inherited tumor rare genetic developmental defect during embryogenesis
Google Knowledge Graph ID	wds:Q23542366-3F5DB503-4B8C-48CB-99D5-B89C9090C3A3
KEGG ID	wds:Q23542366-24231888-A14B-4CD6-85F5-CCE0714C5340
Google Knowledge Graph ID	http://g.co/kg/g/11fctqssgg
KEGG ID	http://www.kegg.jp/entry/H00914
Google Knowledge Graph ID	/g/11fctqssgg
KEGG ID	H00914
UniProt disease ID	wds:Q23542366-d6c6111c-4181-4e64-3b8a-ee0d6173ac28
Orphanet ID	wds:Q23542366-A02BC237-B2C5-46EF-831B-D8D5A5E3EDFA
ICD-9-CM	wds:Q23542366-85F10A84-C6A2-494A-8A64-6BFA706F6ED2
genetic association	wds:Q23542366-121DF892-85F4-43C3-A759-FC3BE482EDA2
GARD rare disease ID	wds:Q23542366-788A0945-C546-4ACD-8196-12DDC7F84364
OMIM ID	wds:Q23542366-23B11398-8501-4C81-BA5E-A3DB6B65DDB2
Genetics Home Reference Conditions ID	wds:Q23542366-86BD7EB8-2D8A-4B17-828B-4946ECB6E704
UniProt disease ID	DI-02764
Orphanet ID	280558
ICD-9-CM	759.89
genetic association	DDX11
GARD rare disease ID	13708
OMIM ID	613398
Genetics Home Reference Conditions ID	warsaw-breakage-syndrome
skos:altLabel	WABS (en) WARSAW BREAKAGE SYNDROME (en) WARSAW BREAKAGE SYNDROME; WABS (en)
NCI Thesaurus ID	wds:Q23542366-cc9143f2-415b-1cb4-9dc6-658962219d73
UMLS CUI	wds:Q23542366-D6A0A6C4-DE2B-4FE9-9DC0-FC960BEBC13C
on focus list of Wikimedia project	wds:Q23542366-28D6F508-9990-4FEA-AE6E-E7717064CA4C
NCI Thesaurus ID	C164675
UMLS CUI	C3150658
on focus list of Wikimedia project	WikiProject Medicine
WikiProjectMed ID	wds:Q23542366-2D2C2924-8C60-4A38-BDD6-1EE00DD1F00D
WikiProjectMed ID	Warsaw breakage syndrome
is about of	Warsaw breakage syndrome https://www.wikidata.org/wiki/Special:EntityData/Q23542366 Warsaw breakage syndrome https://fi.wikipedia.org/wiki/Varsovan_oireyhtym%C3%A4
is main subject of	Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1 Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome Biochemical characterization of Warsaw breakage syndrome helicase Tim/Timeless, a member of the replication fork protection complex, operates with the Warsaw breakage syndrome DNA helicase DDX11 in the same fork recovery pathway Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Interaction of the Warsaw breakage syndrome DNA helicase DDX11 with the replication fork-protection factor Timeless promotes sister chromatid cohesion Warsaw breakage syndrome DDX11 helicase acts jointly with RAD17 in the repair of bulky lesions and replication through abasic sites Molecular and Cellular Functions of the Warsaw Breakage Syndrome DNA Helicase DDX11 Warsaw breakage syndrome: Further clinical and genetic delineation Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible? Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases Spotlight on Warsaw Breakage Syndrome Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion
is main subject of	wds:Q24649624-5D986BDD-4D5B-4F81-A004-4C2E7856D8A8 wds:Q59813591-514907B8-727D-4207-BCBF-CF01C8DDC36E wds:Q35668772-42E3E3C1-41AE-4C32-979F-F8EC63E11874

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