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DO Term : Bernard-Soulier syndrome type A2 [DOID:0111059] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
  • synonyms:
  • BSSA2,
  • OMIM:153670,
  • 153670
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents