About: Nijmegen breakage syndrome

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Nijmegen breakage syndrome Goto Sponge NotDistinct Permalink

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
description	human disease (en) Krankheit (de) մարդու հիվանդություն (hy) хвороба людини (uk) مرض يصيب الإنسان (ar) maladie génétique (fr) genetycznie uwarunkowana choroba (pl) rara enfermedad de transmisión autosómica recesiva (es)
exact match	wds:Q1250362-0D6C38A0-7580-4460-A2C9-7F70A3F0BEA2 wds:Q1250362-7D044B2D-7881-44C6-A34B-DCE714198BDC wds:Q1250362-BA042934-9672-40C0-9B40-5500344E7661
exact match	http://purl.obolibrary.org/obo/DOID_7400 http://identifiers.org/doid/DOID:7400 http://www.orpha.net/ORDO/Orphanet_647
health specialty	wds:Q1250362-358B424C-EC13-48E5-96C8-3F63C0AE1CFC
Mondo ID	wds:Q1250362-80F72277-11DE-4EBB-8DE3-2E3F6A4EA099
DiseasesDB	wds:Q1250362-49D1DD8D-5EA9-457B-9BC6-AA1B2C96954B
Disease Ontology ID	wds:Q1250362-4097108E-B3A0-40E6-8582-56EE1FB93307
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0009623
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:7400
health specialty	endocrinology
Mondo ID	MONDO_0009623
DiseasesDB	32395
Disease Ontology ID	DOID:7400
rdfs:label	Nijmegen breakage syndrome (en) Nijmegen breakage syndroom (nl) Nijmegen-Breakage-Syndrom (de) Nijmegenin murtumaoireyhtymä (fi) Zespół Nijmegen (pl) cиндром Неймеген (uk) syndrome de Nimègue (fr) síndrome de Nimega (es) Синдром повреждения Неймегена (ru) ナイミーヘン染色体不安定症候群 (ja)
skos:prefLabel	Nijmegen breakage syndrome (en) Nijmegen breakage syndroom (nl) Nijmegen-Breakage-Syndrom (de) Nijmegenin murtumaoireyhtymä (fi) Zespół Nijmegen (pl) cиндром Неймеген (uk) syndrome de Nimègue (fr) síndrome de Nimega (es) Синдром повреждения Неймегена (ru) ナイミーヘン染色体不安定症候群 (ja)
name	Nijmegen breakage syndrome (en) Nijmegen breakage syndroom (nl) Nijmegen-Breakage-Syndrom (de) Nijmegenin murtumaoireyhtymä (fi) Zespół Nijmegen (pl) cиндром Неймеген (uk) syndrome de Nimègue (fr) síndrome de Nimega (es) Синдром повреждения Неймегена (ru) ナイミーヘン染色体不安定症候群 (ja)
Freebase ID	wds:Q1250362-62DDA7E1-43DF-4E25-A190-DD772B2F0491
Freebase ID	/m/09wrvw
instance of	wds:Q1250362-26A7EE66-D30D-4FAA-8636-8B836E4BA684 wds:Q1250362-D26A261E-2662-4FCD-9FDF-CB1792EBF4EB wds:Q1250362-F1A87ACC-0407-457C-A042-A39CD6E0C6FE
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q1250362-0BB85902-2A77-4028-9083-19D3A8C3C9B9 wds:Q1250362-392CDD2A-D352-499C-80C6-56FF81B0BBE2 wds:Q1250362-80838F9C-DAE1-44CC-8E26-1133C22EB7CC wds:Q1250362-8E255F3E-2CC3-4641-B7B4-703266D1BB02 wds:Q1250362-AB27F210-C1CA-45C5-9E41-42F75CBF852F wds:Q1250362-D8522738-2131-4B5F-9F3A-77418BB1529A wds:Q1250362-EA8A91FC-AEBE-40F5-9A17-0A038847D199 wds:Q1250362-FB334B2B-EEC4-408A-A827-74C518F644D6
subclass of	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 developmental anomaly of metabolic origin DNA repair defect other than combined T-cell and B-cell immunodeficiencies
KEGG ID	wds:Q1250362-205087E7-9ED8-4413-A7C7-0310CA2D6F50
KEGG ID	http://www.kegg.jp/entry/H01344
KEGG ID	H01344
UniProt disease ID	wds:Q1250362-6d27f6b6-49b8-7afa-4669-dddaff06dbaf
Orphanet ID	wds:Q1250362-3B9898B7-D328-4999-A71D-F62F48247154
genetic association	wds:Q1250362-02B17355-BD50-4E5C-94AD-A9FD37E72EEA
ICD-10-CM	wds:Q1250362-51A3A8F1-C4D4-4242-9CB6-63D4C2F0641C
GARD rare disease ID	wds:Q1250362-64392CC1-0068-4ABA-8E0C-A9F57A245741
OMIM ID	wds:Q1250362-E1DA8AEA-D576-4DDD-B5E6-164A1760EFC1
Genetics Home Reference Conditions ID	wds:Q1250362-10868160-D292-42E8-97F1-B3DD4433383B
UniProt disease ID	DI-02058
Orphanet ID	647
genetic association	NBN
ICD-10-CM	Q87.8
GARD rare disease ID	3904
OMIM ID	251260
Genetics Home Reference Conditions ID	nijmegen-breakage-syndrome
named after	wds:Q1250362-f9a5348e-48e7-9064-73ea-a3eb140029a1
named after	Nijmegen
skos:altLabel	NBS (en) синдром хромосомних поломок Неймеген (uk)

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software