Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE
Synonyms

PLATELET GLYCOPROTEIN Ib, BETA POLYPEPTIDE

GP1BB

BERNARD SOULIER SYNDROME, TYPE B

MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE

GP Ib, BETA SUBUNIT

ID

http://purl.bioontology.org/ontology/OMIM/138720

altLabel

PLATELET GLYCOPROTEIN Ib, BETA POLYPEPTIDE

GP1BB

BERNARD SOULIER SYNDROME, TYPE B

MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE

GP Ib, BETA SUBUNIT

cui

C1856447

C4016131

C1415187

Gene Locus

22q11.2

Gene Symbol

BDPLT1

BS

GP1BB

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/138720.0002

http://purl.bioontology.org/ontology/OMIM/138720.0004

http://purl.bioontology.org/ontology/OMIM/138720.0001

http://purl.bioontology.org/ontology/OMIM/138720.0003

MIMTYPEMEANING

Gene with known sequence

notation

138720

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE

tui

T047

T033

T028

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