Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618108
http://purl.bioontology.org/ontology/OMIM/618108
Preferred Name

IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
Synonyms
IMD57
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
IMD57
prefLabel
IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
Gene Symbol
RIPK1
RIP
IMD57
RIP1
AIEFL
Scope Statement
Onset in early infancy [MISCELLANEOUS]
Caused by mutation in the receptor-interacting serine/threonine kinase 1 gene (RIPK1, 603453.0001) [MOLECULAR BASIS]
Three consanguineous Middle Eastern families have been reported (last curated September 2018) [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU033982
http://purl.bioontology.org/ontology/OMIM/MTHU000068
http://purl.bioontology.org/ontology/OMIM/MTHU011109
http://purl.bioontology.org/ontology/OMIM/MTHU035824
http://purl.bioontology.org/ontology/OMIM/MTHU062403
http://purl.bioontology.org/ontology/OMIM/MTHU014136
http://purl.bioontology.org/ontology/OMIM/MTHU051749
http://purl.bioontology.org/ontology/OMIM/MTHU001680
http://purl.bioontology.org/ontology/OMIM/MTHU062402
http://purl.bioontology.org/ontology/OMIM/MTHU062399
http://purl.bioontology.org/ontology/OMIM/MTHU062401
http://purl.bioontology.org/ontology/OMIM/MTHU000226
http://purl.bioontology.org/ontology/OMIM/MTHU001684
http://purl.bioontology.org/ontology/OMIM/MTHU005751
http://purl.bioontology.org/ontology/OMIM/MTHU001685
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU043669
http://purl.bioontology.org/ontology/OMIM/MTHU037263
http://purl.bioontology.org/ontology/OMIM/MTHU062400
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tui
T047
Gene Locus
6p25.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618108
Semantic type UMLS property
Has inheritance type
cui
C4748212
OMIM Entry Type
3
OMIM MimType Value
pound
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