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thrombocytopenia 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.
Uniprot Description Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies.
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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616216
UMLS:C4015537
MONDO:0014536
High level summary of knowledge for a disease, including descriptions and datasource references.