OBO ID: DOID:0111053
Term Name: platelet-type bleeding disorder 15 Search Ontology:
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)
OTHER platelet-type bleeding disorder 15 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ACTN1 Bleeding disorder, platelet-type, 15 615193
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None