About: Nijmegen breakage syndrome-like disorder

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About: Nijmegen breakage syndrome-like disorder 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) хвороба людини (uk) maladie génétique (fr)
exact match	wds:Q55395613-181FC6E4-8A0B-42C0-9014-F1A2C06D7228
exact match	http://www.orpha.net/ORDO/Orphanet_240760
Mondo ID	wds:Q55395613-61282413-6880-4799-A763-F672316E1D7C
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0013118
Mondo ID	MONDO_0013118
rdfs:label	Nijmegen breakage syndrome-like disorder (en) syndrome Nijmegen-like (fr)
skos:prefLabel	Nijmegen breakage syndrome-like disorder (en) syndrome Nijmegen-like (fr)
name	Nijmegen breakage syndrome-like disorder (en) syndrome Nijmegen-like (fr)
instance of	wds:Q55395613-0DCF9DF2-4F92-40A7-B4FE-8B01C03CA719 wds:Q55395613-681D915B-B91C-4EEC-901D-D09862DA32A1 wds:Q55395613-CBB429E4-D832-46AD-BCF8-87E94A2B0A95
instance of	class of disease rare disease developmental defect during embryogenesis
subclass of	wds:Q55395613-26B764A5-A7C4-424E-8CB5-A1F1E8D5349F wds:Q55395613-3060e034-4ce2-1224-0d6f-877ca5a867ef wds:Q55395613-B066C72D-01F6-4ED8-9F5B-884DDCFE84F3 wds:Q55395613-B80D605A-B99B-4FD8-8A03-D3BFE174A0A9 wds:Q55395613-CD381ACF-5B6E-44C9-A1BD-7C725D5A07EE wds:Q55395613-CD4E0C4A-A73F-47BD-A2AB-571C10271361 wds:Q55395613-D841F8CB-E0B5-488A-80B4-88F383A41080
subclass of	combined immunodeficiency polymalformative genetic syndrome with increased risk of developing cancer 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
UniProt disease ID	wds:Q55395613-5e88c109-46bb-4bd9-e546-b57eeb9527f5
Orphanet ID	wds:Q55395613-0005e8bf-42a2-cb78-df2f-b4adbd24e2fb
genetic association	wds:Q55395613-0D7B9C92-A28B-4E84-AF67-D48D7F0448C6
OMIM ID	wds:Q55395613-55754851-4178-056d-7fa4-0b0cb589a979
UniProt disease ID	DI-02806
Orphanet ID	240760
genetic association	RAD50
OMIM ID	613078
skos:altLabel	NBSLD (en) NBS-like disorder (en) NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER (en) NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD (en) Rad50 Deficiency (en) Microcephaly and chromosomal instability without immunodeficiency (en) Microcephaly and Spontaneous Chromosome Instability Without Immunodeficiency (en)
NCI Thesaurus ID	wds:Q55395613-e2e4988b-42fc-1e0e-1ce4-edbad4b6348d
UMLS CUI	wds:Q55395613-9DEDB9D6-D5A9-400F-9A6F-CB8059BC5554
MeSH descriptor ID	wds:Q55395613-03771541-6F1F-425C-95AB-04420283AB88
MeSH descriptor ID	http://id.nlm.nih.gov/mesh/C567767
NCI Thesaurus ID	C153178
UMLS CUI	C2751318
MeSH descriptor ID	C567767
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q55395613
is main subject of	Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder
is main subject of	wds:Q37189141-16C29916-8AED-4505-B2B7-A55809D6A625
is genetic association of	RAD50
is genetic association of	wds:Q18035037-D619F016-0EE4-4847-816C-30BE5E466508
is established from medical condition of	F239hTert
is established from medical condition of	wds:Q93548392-5AC1BFEE-DF2C-4AF8-A99E-F64F1B3B860A

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