Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/620814 http://purl.bioontology.org/ontology/OMIM/620814
Preferred Name	MHC CLASS I DEFICIENCY 3
Synonyms	MHC1D3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MHC1D3
prefLabel	MHC CLASS I DEFICIENCY 3
Gene Symbol	TAPBP MHC1D3 TPSN
Scope Statement	Caused by mutation in the TAP-binding protein gene (TAPBP, 601962.0001) [MOLECULAR BASIS] Adult onset [MISCELLANEOUS] One patient has been reported (last curated May 2024) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU078674 http://purl.bioontology.org/ontology/OMIM/MTHU036986 http://purl.bioontology.org/ontology/OMIM/MTHU078677 http://purl.bioontology.org/ontology/OMIM/MTHU078676 http://purl.bioontology.org/ontology/OMIM/MTHU078416 http://purl.bioontology.org/ontology/OMIM/MTHU078678 http://purl.bioontology.org/ontology/OMIM/MTHU078675 See more See less
tui	T047
Gene Locus	6p21.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	620814
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5935618
OMIM Entry Type	3
OMIM MimType Value	pound

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