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Metadata
ID DOID:2217
Name Bernard-Soulier syndrome
Definition A 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

MESH:D001606

NCI:C84595

OMIM:231200

ORDO:274

SNOMEDCT_US_2020_09_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]

Parent Relationships

is_a blood coagulation disease

is_a autosomal recessive disease

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