SAMD9L-Associated Hereditary Myelodysplastic Syndrome

Preferred Label : SAMD9L-Associated Hereditary Myelodysplastic Syndrome;

NCIt synonyms : SAMD9L-Associated Familial MDS;

NCIt related terms : SAMD9L-Associated Familial Myelodysplastic Syndrome;

NCIt definition : A familial myelodysplastic syndrome caused by inherited mutations in the SAMD9L gene.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1378657;

Details

Origin ID

C168747;

UMLS CUI

C5239091;

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]
- 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
- Bone Marrow Dysplasia Present [NCIt concept]
- Hereditary Lesion [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]
- Preexisting Condition [NCIt concept]
disease_has_molecular_abnormality
- Germline SAMD9L 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
- Bone Marrow [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- SAMD9L Gene [NCIt concept]
related_to_genetic_biomarker
- SAMD9L Gene [NCIt concept]

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