About: hereditary pediatric Behçet-like disease

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About: hereditary pediatric Behçet-like disease 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
owl:sameAs	hereditary pediatric Behçet-like disease
description	human disease (en) մարդու հիվանդություն (hy) хвороба людини (uk)
exact match	wds:Q55784985-9BCAB1CC-BA7E-4619-8FD7-D56FABF897A8
exact match	http://www.orpha.net/ORDO/Orphanet_476102
Mondo ID	wds:Q55784985-5F722AA1-E842-489E-B42D-8C951608CCFC
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0014761
Mondo ID	MONDO_0014761
rdfs:label	hereditary pediatric Behçet-like disease (en)
skos:prefLabel	hereditary pediatric Behçet-like disease (en)
name	hereditary pediatric Behçet-like disease (en)
instance of	wds:Q55784985-0C2FE6D5-74A4-42A6-9373-0DE4B7376E80 wds:Q55784985-8094DD25-9108-43CA-BAAB-0AE2E6917959
instance of	class of disease rare disease
subclass of	wds:Q55784985-4A322DFB-4844-4288-9284-CCD151273A7E wds:Q55784985-66028C1A-B08B-4CC1-BB83-D64D404BD7D4 wds:Q55784985-E19B5E04-AF26-495B-9EF7-C7D4449DBDD4
subclass of	genetic systemic or rheumatologic disease rare genetic disease unclassified autoinflammatory syndrome
Google Knowledge Graph ID	wds:Q55784985-33335765-8E40-49BB-9319-3F8B8272DA4A
Google Knowledge Graph ID	http://g.co/kg/g/11g1qjl9fj
Google Knowledge Graph ID	/g/11g1qjl9fj
Orphanet ID	wds:Q55784985-4F86BC03-F7E2-4A27-BB52-A6A2F3EDCECC
genetic association	wds:Q55784985-B80C1EDA-80CE-4959-9AF3-50BE618B0A2E
OMIM ID	wds:Q55784985-557E27B9-1D84-4AC9-8FEE-12950188E613
Orphanet ID	476102
genetic association	TNFAIP3
OMIM ID	616744
skos:altLabel	AISBL (en) Behçet-like disease due to haploinsufficiency of A20 (en) Autoinflammatory Syndrome, Familial, Behcet-Like (en) Behçet-like disease due to HA20 (en) Haploinsufficiency of A20 (en) Hereditary pediatric Behçet-like disease (en)
UMLS CUI	wds:Q55784985-B1F85D02-1167-47B8-9D89-8FEA749FF387
UMLS CUI	C4225218
is owl:sameAs of	hereditary pediatric Behçet-like disease
is about of	hereditary pediatric Behçet-like disease https://www.wikidata.org/wiki/Special:EntityData/Q55784985 Haploinsufficiency of A20
is main subject of	Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. [A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review] Paediatric-onset haploinsufficiency of A20 associated with a novel and de novo nonsense TNFAIP3 mutation Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3 Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20 Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3 Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease. Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever [Research progress in haploinsufficiency of A20]
is main subject of	wds:Q91647287-C4FCD359-344A-4370-B771-6FC5C8701B99 wds:Q94954679-4D935409-E1C1-40CF-9FC7-56511FD40DFF wds:Q89500694-4DAA9915-A1E8-42F6-8505-52F8C63277F8 wds:Q91450714-21DFAD4F-0E1D-4374-AB7D-B6FEC55DCC84 wds:Q96232340-F54616E8-2068-49BF-B7CB-93DF7EFD87EA wds:Q58548763-D31F4B94-7CFC-4322-9FBE-9CE9974E3E41 wds:Q90512963-B6B1D497-CB44-4520-AC42-CCC38D842733 wds:Q89148446-0D25CFDF-F79E-42FD-AA32-9080C94C7A5A wds:Q50424333-7F641FDB-7D03-4FB5-B8BE-CCC197F40D1D wds:Q64885040-EE0E5036-8E4B-4064-990F-747EDCBF2131 wds:Q92381057-D13E17A5-5810-4160-ADE6-3957BACBCBD2 wds:Q91647376-8970EBC6-32F4-48AB-97C2-7F01A7394A79

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