Medical Subject Headings

Last uploaded: January 31, 2024
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Preferred Name

Bernard-Soulier Syndrome
Synonyms

Syndrome, Bernard-Soulier
Definitions

A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
ID

http://purl.bioontology.org/ontology/MESH/D001606
altLabel

Syndrome, Bernard-Soulier

Glycoprotein Ib, Platelet, Deficiency Of

Giant Platelet Syndrome

Deficiency of Platelet Glycoprotein 1b

Platelet Glycoprotein 1b, Deficiency of

Platelet Glycoprotein Ib Deficiency

Platelet Syndromes, Giant

Von Willebrand Factor Receptor Deficiency

Syndromes, Giant Platelet

Syndrome, Giant Platelet

Bernard Soulier Syndrome
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0005129

C2713537
DC

1
definition

A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
DX

19910101
HN

1991(1986)
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation

1991; see BLOOD PLATELET DISORDERS 1986-1990
Mapped from

http://purl.bioontology.org/ontology/MESH/C567696

http://purl.bioontology.org/ontology/MESH/C565550

http://purl.bioontology.org/ontology/MESH/C565549

http://purl.bioontology.org/ontology/MESH/C565548
MDA

19850311
MMR

20120703
MN

C15.378.140.120

C16.320.099.080

C15.378.100.100.080

C15.378.463.080
notation

D001606
prefLabel

Bernard-Soulier Syndrome
TERMUI

T752885

T811428

T752883

T004624

T004625

T811429

T752884
TH

OMIM (2013)

UNK (19XX)

NLM (1986)

NLM (2010)

ORD (2010)
tui

T047
subClassOf

http://purl.bioontology.org/ontology/MESH/D025861

http://purl.bioontology.org/ontology/MESH/D006474

http://purl.bioontology.org/ontology/MESH/D001791
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http://purl.bioontology.org/ontology/SNMI/DC-61910 SNMI CUI
http://purl.bioontology.org/ontology/OMIM/231200 OMIM 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/OMIM/231200 OMIM 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/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://purl.obolibrary.org/obo/MONDO_0009276 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0009276 EFO LOOM
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 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://purl.bioontology.org/ontology/OMIM/231200 OMIM 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 DOVES 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