Hematologic Neoplasm with Germline SAMD9 Mutation

Preferred Label : Hematologic Neoplasm with Germline SAMD9 Mutation;

NCIt synonyms : Myeloid Neoplasm with Germline SAMD9 Mutation;

NCIt definition : Myelodysplastic syndromes/acute myeloid leukemias associated with germline SAMD9 mutation.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1773387;

Details

Origin ID

C185293;

UMLS CUI

C5669816;

Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Thrombocytopenia [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
- Hereditary Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Preexisting Condition [NCIt concept]
disease_has_molecular_abnormality
- Germline SAMD9 Gene Mutation [NCIt concept]
- Germline 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
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- SAMD9 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- SAMD9 Gene [NCIt concept]
- SAMD9 wt Allele [NCIt concept]

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