Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/153670 http://purl.bioontology.org/ontology/OMIM/153670
Preferred Name	BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
Synonyms	BSSA2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BSSA2
prefLabel	BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT
Gene Symbol	BDPLT1 BDPLT3 GP1BA VWDP BSS
Scope Statement	Caused by mutation in the glycoprotein Ib, platelet, alpha polypeptide gene (GP1BA, 606672.0006) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU021082 http://purl.bioontology.org/ontology/OMIM/MTHU006276 http://purl.bioontology.org/ontology/OMIM/MTHU021078 http://purl.bioontology.org/ontology/OMIM/MTHU000448 http://purl.bioontology.org/ontology/OMIM/MTHU036919 http://purl.bioontology.org/ontology/OMIM/MTHU009112 http://purl.bioontology.org/ontology/OMIM/MTHU012756 http://purl.bioontology.org/ontology/OMIM/MTHU036918 http://purl.bioontology.org/ontology/OMIM/MTHU021084 http://purl.bioontology.org/ontology/OMIM/MTHU021079 http://purl.bioontology.org/ontology/OMIM/MTHU021080 http://purl.bioontology.org/ontology/OMIM/MTHU021081 http://purl.bioontology.org/ontology/OMIM/MTHU021077 http://purl.bioontology.org/ontology/OMIM/MTHU036809 http://purl.bioontology.org/ontology/OMIM/MTHU005321 See more See less
tui	T047
Gene Locus	17pter-p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	153670
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3277076
OMIM Entry Type	3
OMIM MimType Value	pound

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