Myelodysplastic Syndrome with Somatic Mutation

Preferred Label : Myelodysplastic Syndrome with Somatic Mutation;

NCIt definition : Myelodysplastic syndrome characterized by the presence of somatic mutations.;

Neoplastic status : Malignant;

Details

Origin ID

C97310;

UMLS CUI

C5239401;

Disease may have findings
- Hypercellular Bone Marrow [NCIt concept]
Has associated anatomic sites
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Hematopoietic and Lymphoid Cell [NCIt concept]
- Neoplastic Myeloid Cell [NCIt concept]
disease_has_finding
- Bone Marrow Dysplasia Present [NCIt concept]
- Ineffective Hematopoiesis [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Myeloblasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Recurrent Genetic Abnormalities Present [NCIt concept]
disease_has_molecular_abnormality
- Somatic Variation [NCIt concept]
disease_has_normal_cell_origin
- Bone Marrow Stem Cell [NCIt concept]
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic Tissue [NCIt concept]
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
pathogenesis_of_disease_involves_gene
- ASXL1 Gene [NCIt concept]
- ASXL1 wt Allele [NCIt concept]
- ETV6 Gene [NCIt concept]
- ETV6 wt Allele [NCIt concept]
- EZH2 Gene [NCIt concept]
- EZH2 wt Allele [NCIt concept]
- RUNX1 Gene [NCIt concept]
- RUNX1 wt Allele [NCIt concept]
- TP53 Gene [NCIt concept]
- TP53 wt Allele [NCIt concept]
- TP53*1 Allele [NCIt concept]

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