Online Mendelian Inheritance in Man - IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620807 http://purl.bioontology.org/ontology/OMIM/620807
Preferred Name	IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION
Synonyms	IMD121
Type	http://www.w3.org/2002/07/owl#Class

altLabel	IMD121
prefLabel	IMMUNODEFICIENCY 121 WITH AUTOINFLAMMATION
Gene Symbol	PRAAS5 MECL1 IMD121 PSMB10 LMP10
Scope Statement	Caused by mutation in the proteasome 20S subunit, beta-type, 10 gene (PSMB10, 176847.0006) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] De novo mutation [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036686 http://purl.bioontology.org/ontology/OMIM/MTHU029315 http://purl.bioontology.org/ontology/OMIM/MTHU000068 http://purl.bioontology.org/ontology/OMIM/MTHU043287 http://purl.bioontology.org/ontology/OMIM/MTHU078669 http://purl.bioontology.org/ontology/OMIM/MTHU051749 http://purl.bioontology.org/ontology/OMIM/MTHU052783 http://purl.bioontology.org/ontology/OMIM/MTHU036324 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU001684 http://purl.bioontology.org/ontology/OMIM/MTHU078670 http://purl.bioontology.org/ontology/OMIM/MTHU078358 http://purl.bioontology.org/ontology/OMIM/MTHU010702 http://purl.bioontology.org/ontology/OMIM/MTHU042170 http://purl.bioontology.org/ontology/OMIM/MTHU078665 http://purl.bioontology.org/ontology/OMIM/MTHU078664 http://purl.bioontology.org/ontology/OMIM/MTHU078667 http://purl.bioontology.org/ontology/OMIM/MTHU070737 http://purl.bioontology.org/ontology/OMIM/MTHU049263 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU008318 http://purl.bioontology.org/ontology/OMIM/MTHU002630 http://purl.bioontology.org/ontology/OMIM/MTHU078668 http://purl.bioontology.org/ontology/OMIM/MTHU071695 http://purl.bioontology.org/ontology/OMIM/MTHU078666 http://purl.bioontology.org/ontology/OMIM/MTHU073309 http://purl.bioontology.org/ontology/OMIM/MTHU007447 See more See less
tui	T047
Gene Locus	16q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620807
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C5935616
OMIM Entry Type	3
OMIM MimType Value	pound

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