Search Ontology:
Human Disease

platelet-type bleeding disorder 15

Term ID
DOID:0111053
Synonyms
  • autosomal dominant macrothrombocytopenia ACTN1-related
  • BDPLT15
Definition
A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. https://www.ncbi.nlm.nih.gov/pubmed/23434115
References
Ontology
Human Disease   ( DOID:0111053 )
Relationships
is a type of
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Genes Involved
Zebrafish Models