Visualize
Metadata
DOID DOID:2217
Name Bernard-Soulier syndrome
Definition An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
https://www.ncbi.nlm.nih.gov/pubmed/10706630, https://www.ncbi.nlm.nih.gov/pubmed/8481514, https://www.ncbi.nlm.nih.gov/pubmed/8703016, https://www.ncbi.nlm.nih.gov/pubmed/9616133
Xrefs

CSP2005:4001-0130

MESH:D001606

MTHICD9_2006:287.1

NCI:C84595

OMIM:231200

ORDO:274

SNOMEDCT_US_2018_03_01:54569005

UMLS_CUI:C0005129

Subsets

NCIthesaurus

Synonyms

Bernard - Soulier thrombopathy [EXACT]

Bernard Soulier syndrome [EXACT]

Giant platelet syndrome [EXACT]

Hemorrhagic dystrophic thrombocytopenia [EXACT]

Thrombopathy, Bernard-Soulier [EXACT]

Relationships

is_a inherited blood coagulation disease

Add an item to the term tracker