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1.

Myeloproliferative disorder

Conditions which cause proliferation of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. They all involve dysregulation of multipotent MYELOID PROGENITOR CELLS, most often caused by a mutation in the JAK2 PROTEIN TYROSINE KINASE. [from MeSH]

MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
2.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
3.

Abetalipoproteinaemia

Abetalipoproteinemia and familial hypobetalipoproteinemia (FBHL; 615558) are rare diseases characterized by hypocholesterolemia and malabsorption of lipid-soluble vitamins leading to retinal degeneration, neuropathy, and coagulopathy. Hepatic steatosis is also common. The root cause of both disorders is improper packaging and secretion of apolipoprotein B-containing particles. Obligate heterozygous parents of ABL patients usually have normal lipids consistent with autosomal recessive inheritance, whereas obligate heterozygous parents of FBHL patients typically have half normal levels of apoB-containing lipoproteins consistent with autosomal codominant inheritance (summary by Lee and Hegele, 2014). [from GTR]

MedGen UID:
1253
Concept ID:
C0000744
Disease or Syndrome
4.

Myelodysplastic/Myeloproliferative Neoplasm

A category of clonal hematopoietic disorders that have both myelodysplastic and myeloproliferative features at the time of initial presentation. [from NCI]

MedGen UID:
226981
Concept ID:
C1301355
Neoplastic Process
5.

Imatinib

An antineoplastic agent that inhibits the Bcr-Abl fusion protein tyrosine kinase, an abnormal enzyme produced by chronic myeloid leukemia cells that contain the Philadelphia chromosome. Imatinib also inhibits the receptor tyrosine kinases for platelet-derived growth factor (PDGF) and stem cell factor (SCF)/c-kit; the SCF/c-kit receptor tyrosine kinase is activated in gastrointestinal stromal tumor (GIST). This agent inhibits proliferation and induces apoptosis in cells that overexpress these oncoproteins. [from NCI]

MedGen UID:
183186
Concept ID:
C0935989
Organic Chemical; Pharmacologic Substance
6.

Imatinib mesylate

A tyrosine kinase inhibitor and ANTINEOPLASTIC AGENT that inhibits the BCR-ABL kinase created by chromosome rearrangements in CHRONIC MYELOID LEUKEMIA and ACUTE LYMPHOBLASTIC LEUKEMIA, as well as PDG-derived tyrosine kinases that are overexpressed in gastrointestinal stromal tumors. [from MeSH]

MedGen UID:
182645
Concept ID:
C0939537
Organic Chemical; Pharmacologic Substance
7.

Myeloproliferative neoplasm

MedGen UID:
832455
Concept ID:
CN227752
Disease or Syndrome
8.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
9.

Myelodysplasia

Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. [from HPO]

MedGen UID:
483005
Concept ID:
C3463824
Neoplastic Process
10.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
11.

Chronic

Slow, creeping onset, slow progress and long continuance of disease manifestations. [from HPO]

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
12.

Separated from cohabitee

Indicates a person living apart from his/her spouse by legal arrangement. [from NCI]

MedGen UID:
88651
Concept ID:
C0086972
Finding
13.

Myelodysplastic syndrome

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML; 601626). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011). [from GTR]

MedGen UID:
44547
Concept ID:
C0026986
14.

Eosinophilia

Abnormal increase of EOSINOPHILS in the blood, tissues or organs. [from MeSH]

MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
15.

Chromosomal translocation

A genetic exchange where a piece of one chromosome is transfered to another chromosome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
16.

White blood cell disorder

Disordered formation of various types of leukocytes or an abnormal accumulation or deficiency of these cells. [from MeSH]

MedGen UID:
7325
Concept ID:
C0023510
Disease or Syndrome
17.

Hemic and Lymphatic Diseases

Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. [from MeSH]

MedGen UID:
6780
Concept ID:
C0018981
Disease or Syndrome
18.

Hematologic disease

An abnormality of the hematopoietic system. [from HPO]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
19.

Tropical pulmonary eosinophilia

MedGen UID:
4087
Concept ID:
C0014458
Disease or Syndrome
20.

Bone marrow disease

An anomaly of the form or number of cells in the bone marrow. [from HPO]

MedGen UID:
2311
Concept ID:
C0005956
Disease or Syndrome
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