Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Jump to:
loading...
Preferred Name

BERNARD-SOULIER SYNDROME
Synonyms

GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF

BLEEDING DISORDER, PLATELET-TYPE, 1

BSS

VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY

BERNARD-SOULIER SYNDROME, TYPE B

BDPLT1

PLATELET GLYCOPROTEIN Ib DEFICIENCY

BERNARD-SOULIER SYNDROME, TYPE C

BERNARD-SOULIER SYNDROME, TYPE A1
ID

http://purl.bioontology.org/ontology/OMIM/231200
altLabel

GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF

BLEEDING DISORDER, PLATELET-TYPE, 1

BSS

VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY

BERNARD-SOULIER SYNDROME, TYPE B

BDPLT1

PLATELET GLYCOPROTEIN Ib DEFICIENCY

BERNARD-SOULIER SYNDROME, TYPE C

BERNARD-SOULIER SYNDROME, TYPE A1
cui

C1856447

C1856448

C0005129

C2713537

C3278148
Gene Locus

17pter-p12
Gene Symbol

BDPLT1

BDPLT3

GP1BA

VWDP

BSS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU012757

http://purl.bioontology.org/ontology/OMIM/MTHU009110

http://purl.bioontology.org/ontology/OMIM/MTHU000443

http://purl.bioontology.org/ontology/OMIM/MTHU012753

http://purl.bioontology.org/ontology/OMIM/MTHU012756

http://purl.bioontology.org/ontology/OMIM/MTHU002611

http://purl.bioontology.org/ontology/OMIM/MTHU012752

http://purl.bioontology.org/ontology/OMIM/MTHU012755

http://purl.bioontology.org/ontology/OMIM/MTHU006269

http://purl.bioontology.org/ontology/OMIM/MTHU012754

http://purl.bioontology.org/ontology/OMIM/MTHU036809
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

231200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

BERNARD-SOULIER SYNDROME
Scope Statement

Caused by mutation in the platelet glycoprotein IX gene (GP9, 173515.0001) [MOLECULAR BASIS]

Caused by mutation in the platelet glycoprotein Ib, alpha polypeptide, gene (GP1BA, 606672.0001) [MOLECULAR BASIS]

Caused by mutation in the platelet glycoprotein Ib, beta polypeptide, gene (GP1BB, 138720.0001) [MOLECULAR BASIS]
tui

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565549 MESH CUI
http://purl.bioontology.org/ontology/MESH/C565550 MESH CUI
http://purl.bioontology.org/ontology/SNMI/DC-61910 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D001606 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/234478007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRGER/10057473 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/54569005 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/234478007 SCTSPA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000541 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/54569005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10057473 MDRFRE CUI
http://purl.bioontology.org/ontology/MESH/D001606 MESH CUI
http://purl.bioontology.org/ontology/CSP/4001-0130 CRISP CUI
http://purl.bioontology.org/ontology/RCD/X20Et RCD CUI
http://purl.bioontology.org/ontology/RCD/X20F4 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10057473 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D001606 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D001606 MSHFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.140.120 RH-MESH LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#1812 OCHV LOOM
http://purl.obolibrary.org/obo/DOID_2217 CLO LOOM
http://purl.obolibrary.org/obo/DOID_2217 DOID LOOM
http://purl.obolibrary.org/obo/DOID_2217 BAO LOOM
http://purl.obolibrary.org/obo/DOID_2217 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_2217 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_2217 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_2217 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.463.080 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/DC-61910 SNMI LOOM
http://www.orpha.net/ORDO/Orphanet_274 ORDO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_2217 NATPRO LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_6347f171_fa05_4bf4_ac5d_18d8028f859c STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_6347f171_fa05_4bf4_ac5d_18d8028f859c CVAO LOOM
http://purl.obolibrary.org/obo/NCIT_C84595 BERO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Bernard-Soulier_Syndrome CSEO LOOM
http://purl.jp/bio/4/id/200906012525961820 IOBC LOOM
http://purl.obolibrary.org/obo/OMIM_231200 CCO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.378.100.100.080 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2200656 NANDO LOOM
http://purl.obolibrary.org/obo/OMIT_0002971 OMIT LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/54569005 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0009276 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0009276 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009276 DOVES LOOM
http://purl.bioontology.org/ontology/MESH/D001606 MESH LOOM
http://identifiers.org/omim/231200 REXO LOOM
http://identifiers.org/omim/231200 GEXO LOOM
http://identifiers.org/omim/231200 RETO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84595 NCIT LOOM
http://www.limics.org/hrdo/rdfns#pat_id_796 HRDO LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037370 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.099.080 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/X20Et RCD LOOM
http://www.limics.fr/ontologies/ontolurgences#MaladieDeBernardSoulier ONTOLURGENCES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0005129 OCHV LOOM
http://purl.bioontology.org/ontology/MEDDRA/10057473 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D001606 RH-MESH LOOM