OBO ID: DOID:0060691
Term Name: platelet-type bleeding disorder 16 Search Ontology:
Synonyms:
  • autosomal dominant Glanzmann thrombasthenia
  • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Definition: A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (3)
References:
  • ICD10CM:D69.4
  • MIM:187800
  • ORDO:140957
Ontology: Human Disease   ( DOID:0060691 )
Relationships
is a type of:
disjoint_from:
OTHER platelet-type bleeding disorder 16 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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