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Metadata
ID DOID:0111053
Name platelet-type bleeding disorder 15
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
Xrefs

OMIM:615193

Synonyms

autosomal dominant macrothrombocytopenia ACTN1-related [EXACT]

BDPLT15 [EXACT]

Parent Relationships

is_a blood platelet disease

is_a autosomal dominant disease

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