About: Bernard-Soulier syndrome

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease blood coagulation disease nodeID://b50950611 nodeID://b50950612
label	Bernard-Soulier syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:2217
database_cross_reference	MESH:D001606 NCI:C84595 OMIM:231200 ORDO:274 SNOMEDCT_US_2021_09_01:54569005 UMLS_CUI:C0005129
has_exact_synonym	Bernard - Soulier thrombopathy (en) Bernard Soulier syndrome (en) Giant platelet syndrome (en) Hemorrhagic dystrophic thrombocytopenia (en) Thrombopathy, Bernard-Soulier (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	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.
is subClassOf of	Bernard-Soulier syndrome type A2
is first of	nodeID://b50956970
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50950613

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