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platelet-type bleeding disorder 19
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG 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.
Disease Ontology Description An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material basis in homozygous mutation in the PRKACG gene on chromosome 9q21.
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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:0111048
OMIM:616176
Orphanet:438207
UMLS:C4015405
MONDO:0014518
High level summary of knowledge for a disease, including descriptions and datasource references.