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;

UMLS CUI

C4015537;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombocytopenia 5 [OMIM Phenotype]
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]

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