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Disease Ontology Browser
platelet-type bleeding disorder 15 (DOID:0111053)
Alliance: disease page
Synonyms: autosomal dominant macrothrombocytopenia ACTN1-related; BDPLT15
Alt IDs: OMIM:615193
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory