Visualize Submit Comment
Metadata
ID DOID:0060691
Name platelet-type bleeding disorder 16
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.
https://www.ncbi.nlm.nih.gov/pubmed/18065693, https://www.ncbi.nlm.nih.gov/pubmed/21454453, https://www.ncbi.nlm.nih.gov/pubmed/9834222
Xrefs

ICD10CM:D69.4

OMIM:187800

ORDO:140957

Subsets

DO_rare_slim

Synonyms

autosomal dominant Glanzmann thrombasthenia [EXACT]

autosomal dominant thrombasthenia of Glanzmann and Naegeli [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal dominant disease

Add an item to the term tracker