Thrombocytopenia 5

Preferred Label : Thrombocytopenia 5;

NCIt synonyms : THC5;

NCIt definition : An autosomal dominant disorder characterized by decreased platelets, bleeding tendency, and mutation in the ETV6 gene. It is associated with an increased risk of developing hematologic malignancy.;

Details

Origin ID

C203436;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
disease_has_finding
- Thrombocytopenia [NCIt concept]
disease_has_molecular_abnormality
- ETV6 Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- ETV6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients