FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term platelet-type bleeding disorder 16 ID (Ontology) DOID:0060691 (Human Disease)
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.
Also Known As "autosomal dominant Glanzmann thrombasthenia" ; "autosomal dominant thrombasthenia of Glanzmann and Naegeli"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 platelet-type bleeding disorder 16       1
 for disease ribbon | platelet-type bleeding disorder 16       1
 model of | platelet-type bleeding disorder 16       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__blood platelet disease______|
                                platelet-type bleeding disorder 16  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal dominant disease
blood platelet disease
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "autosomal dominant Glanzmann thrombasthenia" EXACT
    "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
ICD10CM:D69.4
MIM:187800
ORDO:140957