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platelet-type bleeding disorder 15
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene.
Uniprot Description An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.
Disease Ontology Description An inherited blood coagulation 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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111053
OMIM:615193
UMLS:C3554663
MONDO:0014078
High level summary of knowledge for a disease, including descriptions and datasource references.