Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder

Preferred Label : Juvenile Myelomonocytic Leukemia Associated with Noonan Syndrome-Like Disorder;

NCIt synonyms : Juvenile Myelomonocytic Leukemia Associated with CBL Syndrome; JMML Associated with Noonan Syndrome-Like Disorder; JMML Associated with CBL Syndrome;

NCIt definition : Juvenile myelomonocytic leukemia that is associated with a genetic disorder caused by germline mutations in the CBL gene and phenotypically resembles Noonan syndrome (Noonan syndrome-like disorder).;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1905835;

Details

Origin ID

C198682;

UMLS CUI

C5855039;

Disease may have findings
- Cafe Au Lait Spot [NCIt concept]
- Elevated Serum Lysozyme [NCIt concept]
- Fatigue [NCIt concept]
- Fever [NCIt concept]
- Hemoglobin F Increased [NCIt concept]
- Hemorrhage [NCIt concept]
- Nucleated Red Blood Cells Present [NCIt concept]
- Polyclonal Hypergammaglobulinemia [NCIt concept]
- Skin Rash [NCIt concept]
- Thrombocytopenia [NCIt concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Auer Rods Present [NCIt concept]
- Benign Cellular Infiltrate [NCIt concept]
- Thrombocytopenia [NCIt concept]
disease_excludes_molecular_abnormality
- BCR-ABL1 Fusion Protein Expression [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_associated_disease
- Anemia [NCIt concept]
- Noonan Syndrome-Like Disorder [NCIt concept]
disease_has_finding
- Blasts Under 20 Percent of Bone Marrow Nucleated Cells [NCIt concept]
- Blasts Under 20 Percent of Peripheral Blood White Cells [NCIt concept]
- Childhood Lesion [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Hypercellular Bone Marrow [NCIt concept]
- Immature Granulocytes in Peripheral Blood Increased [NCIt concept]
- Leukocytosis [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Monocytosis [NCIt concept]
- Preexisting Condition [NCIt concept]
- RAS Signal Transduction Pathway Activated [NCIt concept]
- Splenomegaly [NCIt concept]
disease_has_molecular_abnormality
- 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_may_have_associated_disease
- Bronchitis [NCIt concept]
- Neurofibromatosis Type 1 [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Monosomy 7 [NCIt concept]
disease_may_have_molecular_abnormality
- KRAS Gene Mutation [NCIt concept]
- NRAS Gene Mutation [NCIt concept]
- PTPN11 Gene Mutation [NCIt concept]
- RRAS Gene Mutation [NCIt concept]
may_be_associated_disease_of_disease
- Noonan Syndrome-Like Disorder [NCIt concept]

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