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Bernard-Soulier Syndrome

Go to external page http://purl.bioontology.org/ontology/MESH/D001606

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

Instance info

Synonyms

Platelet Glycoprotein 1b, Deficiency of, Platelet Glycoprotein Ib Deficiency, Thrombopathie, makrozytäre (DE), Glycoprotein Ib, Platelet, Deficiency Of, Deficiency of Platelet Glycoprotein 1b, Syndrome, Bernard-Soulier, Bernard Soulier Syndrome, Giant Platelet Syndrome, Platelet Syndromes, Giant, Bernard-Soulier-Syndrom (DE), Syndromes, Giant Platelet, Von Willebrand Factor Receptor Deficiency, Syndrome, Giant Platelet, Riesenthrombozytensyndrom (DE)

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

DC

1

DX

19910101

HN

1991(1986)

MDA

19850311

MMR

20120703

MN

C15.378.140.120,C15.378.463.080,C15.378.100.100.080,C16.320.099.080

PM

1991; see BLOOD PLATELET DISORDERS 1986-1990

QB

http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D014842,http://purl.bioontology.org/ontology/MESH/D005171,http://purl.bioontology.org/ontology/MESH/D014884,http://purl.bioontology.org/ontology/MESH/D010981,http://purl.bioontology.org/ontology/MESH/D005173,http://purl.bioontology.org/ontology/MESH/D005175,http://purl.bioontology.org/ontology/MESH/D005177,http://purl.bioontology.org/ontology/MESH/D013915,http://purl.bioontology.org/ontology/MESH/D014923,http://purl.bioontology.org/ontology/MESH/D020141,http://purl.bioontology.org/ontology/MESH/D022861,http://purl.bioontology.org/ontology/MESH/D004211,http://purl.bioontology.org/ontology/MESH/D005168,http://purl.bioontology.org/ontology/MESH/D002836,http://purl.bioontology.org/ontology/MESH/D007020,http://purl.bioontology.org/ontology/MESH/D016553,http://purl.bioontology.org/ontology/MESH/D005166,http://purl.bioontology.org/ontology/MESH/D014813,http://purl.bioontology.org/ontology/MESH/D013921,http://purl.bioontology.org/ontology/MESH/D013920,http://purl.bioontology.org/ontology/MESH/D013922,http://purl.bioontology.org/ontology/MESH/D020151,http://purl.bioontology.org/ontology/MESH/D020152,http://purl.bioontology.org/ontology/MESH/D055652,http://purl.bioontology.org/ontology/MESH/D020016,http://purl.bioontology.org/ontology/MESH/D006467,http://purl.bioontology.org/ontology/MESH/D000347

TERMUI

T811428,T811429,T004624,T004625,T752883,T752884,T752885

TH

ORD (2010),OMIM (2013),NLM (2010),UNK (19XX),NLM (1986)

cui

C2713537,C0005129

hasSTY

http://purl.bioontology.org/ontology/STY/T047

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

tui

T047

Instance relations

Types