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platelet-type bleeding disorder 20
Disease Summary
Associated Targets (2)
Tbio
1
Tdark
1
Mondo Description Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene.
Uniprot Description A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material basis in heterozygous mutation in the SLFN14 gene on chromosome 17q12.
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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:0111055
OMIM:616913
Orphanet:466806
UMLS:C4310797
MONDO:0014830
High level summary of knowledge for a disease, including descriptions and datasource references.