OBO ID: DOID:0111059
Term Name: Bernard-Soulier syndrome type A2 Search Ontology:
Synonyms:
  • BSSA2
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0111059 )
Relationships
is a type of:
OTHER Bernard-Soulier syndrome type A2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GP1BA Bernard-Soulier syndrome, type A2 (dominant) 153670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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