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About: Bernard-Soulier syndrome type A2     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • Bernard-Soulier syndrome type A2
described by
id
  • DOID:0111059
database_cross_reference
  • OMIM:153670
has_exact_synonym
  • BSSA2 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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