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 |
|
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 |
Create mapping
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.bioontology.org/ontology/MESH/C565549 | MESH | CUI | |
http://purl.bioontology.org/ontology/LNC/LP432656-9 | LOINC | CUI | |
http://www.limics.org/hrdo/rdfns#gen_id_16158 | HRDO | LOOM |