OBO ID: DOID:0111053 |
Term Name: | platelet-type bleeding disorder 15 | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0111053 ) |
OTHER platelet-type bleeding disorder 15 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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