Online Mendelian Inheritance in Man - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619175 http://purl.bioontology.org/ontology/OMIM/619175
Preferred Name	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5
Synonyms	PRAAS5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PRAAS5
prefLabel	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5
Gene Symbol	PRAAS5 MECL1 IMD121 PSMB10 LMP10
Scope Statement	Caused by mutation in the proteasome 20S subunit, beta-type, 10 gene (PSMB10, 176847.0001) [MOLECULAR BASIS] Favorable response to treatment with JAK1 inhibitors [MISCELLANEOUS] Onset in the first days of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU072771 http://purl.bioontology.org/ontology/OMIM/MTHU072770 http://purl.bioontology.org/ontology/OMIM/MTHU072772 http://purl.bioontology.org/ontology/OMIM/MTHU078412 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU005931 http://purl.bioontology.org/ontology/OMIM/MTHU026474 http://purl.bioontology.org/ontology/OMIM/MTHU000619 http://purl.bioontology.org/ontology/OMIM/MTHU038440 http://purl.bioontology.org/ontology/OMIM/MTHU010581 http://purl.bioontology.org/ontology/OMIM/MTHU002090 http://purl.bioontology.org/ontology/OMIM/MTHU056029 http://purl.bioontology.org/ontology/OMIM/MTHU059917 http://purl.bioontology.org/ontology/OMIM/MTHU008388 http://purl.bioontology.org/ontology/OMIM/MTHU078411 http://purl.bioontology.org/ontology/OMIM/MTHU057494 http://purl.bioontology.org/ontology/OMIM/MTHU078410 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU063766 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU006439 http://purl.bioontology.org/ontology/OMIM/MTHU001621 http://purl.bioontology.org/ontology/OMIM/MTHU072773 http://purl.bioontology.org/ontology/OMIM/MTHU072774 http://purl.bioontology.org/ontology/OMIM/MTHU000211 http://purl.bioontology.org/ontology/OMIM/MTHU004645 http://purl.bioontology.org/ontology/OMIM/MTHU078413 http://purl.bioontology.org/ontology/OMIM/MTHU012473 See more See less
tui	T047
Gene Locus	16q22.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619175
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5543027
OMIM Entry Type	3
OMIM MimType Value	pound

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display