Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620880
http://purl.bioontology.org/ontology/OMIM/620880
Preferred Name

AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS
Synonyms
AIARV
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
AIARV
prefLabel
AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS
Gene Symbol
AIARV
TBK1
IIAE8
FTDALS4
NAK
Scope Statement
Favorable response to anti-TNF treatment [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Caused by mutation in the tank-binding kinase 1 gene (TBK1, 604834.0011) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU077026
http://purl.bioontology.org/ontology/OMIM/MTHU016642
http://purl.bioontology.org/ontology/OMIM/MTHU036374
http://purl.bioontology.org/ontology/OMIM/MTHU078757
http://purl.bioontology.org/ontology/OMIM/MTHU078756
http://purl.bioontology.org/ontology/OMIM/MTHU018875
http://purl.bioontology.org/ontology/OMIM/MTHU078759
http://purl.bioontology.org/ontology/OMIM/MTHU002712
http://purl.bioontology.org/ontology/OMIM/MTHU047053
http://purl.bioontology.org/ontology/OMIM/MTHU044587
http://purl.bioontology.org/ontology/OMIM/MTHU052783
http://purl.bioontology.org/ontology/OMIM/MTHU001288
http://purl.bioontology.org/ontology/OMIM/MTHU044978
http://purl.bioontology.org/ontology/OMIM/MTHU005283
http://purl.bioontology.org/ontology/OMIM/MTHU064384
http://purl.bioontology.org/ontology/OMIM/MTHU078760
http://purl.bioontology.org/ontology/OMIM/MTHU070468
http://purl.bioontology.org/ontology/OMIM/MTHU077892
http://purl.bioontology.org/ontology/OMIM/MTHU056026
http://purl.bioontology.org/ontology/OMIM/MTHU018114
http://purl.bioontology.org/ontology/OMIM/MTHU070737
http://purl.bioontology.org/ontology/OMIM/MTHU008388
http://purl.bioontology.org/ontology/OMIM/MTHU036764
http://purl.bioontology.org/ontology/OMIM/MTHU024821
http://purl.bioontology.org/ontology/OMIM/MTHU068736
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU066377
http://purl.bioontology.org/ontology/OMIM/MTHU038981
http://purl.bioontology.org/ontology/OMIM/MTHU006439
http://purl.bioontology.org/ontology/OMIM/MTHU002630
http://purl.bioontology.org/ontology/OMIM/MTHU000211
http://purl.bioontology.org/ontology/OMIM/MTHU041276
http://purl.bioontology.org/ontology/OMIM/MTHU078761
http://purl.bioontology.org/ontology/OMIM/MTHU001677
http://purl.bioontology.org/ontology/OMIM/MTHU074749
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU078758
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tui
T047
Gene Locus
12q14.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620880
Semantic type UMLS property
Has inheritance type
cui
C5935634
OMIM Entry Type
3
OMIM MimType Value
pound
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