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1.

Leukemia

A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. [from HPO]

MedGen UID:
9725
Concept ID:
C0023418
Neoplastic Process
2.

Familial multiple polyposis syndrome

Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps) in the colon as early as their teenage years. Unless the colon is removed, these polyps will become malignant (cancerous). The average age at which an individual develops colon cancer in classic familial adenomatous polyposis is 39 years. Some people have a variant of the disorder, called attenuated familial adenomatous polyposis, in which polyp growth is delayed. The average age of colorectal cancer onset for attenuated familial adenomatous polyposis is 55 years.In people with classic familial adenomatous polyposis, the number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon. Also of particular significance are noncancerous growths called desmoid tumors. These fibrous tumors usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. Desmoid tumors tend to recur after they are surgically removed. In both classic familial adenomatous polyposis and its attenuated variant, benign and malignant tumors are sometimes found in other places in the body, including the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. People who have colon polyps as well as growths outside the colon are sometimes described as having Gardner syndrome.A milder type of familial adenomatous polyposis, called autosomal recessive familial adenomatous polyposis, has also been identified. People with the autosomal recessive type of this disorder have fewer polyps than those with the classic type. Fewer than 100 polyps typically develop, rather than hundreds or thousands. The autosomal recessive type of this disorder is caused by mutations in a different gene than the classic and attenuated types of familial adenomatous polyposis. [from GTR]

MedGen UID:
46010
Concept ID:
C0032580
Neoplastic Process
3.

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
4.

Lymphoid leukemia

A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias. [from NCI]

MedGen UID:
9728
Concept ID:
C0023448
Neoplastic Process
5.

Myeloid leukemia

A clonal proliferation of myeloid cells and their precursors in the bone marrow, peripheral blood, and spleen. When the proliferating cells are immature myeloid cells and myeloblasts, it is called acute myeloid leukemia. When the proliferating myeloid cells are neutrophils, it is called chronic myelogenous leukemia. [from NCI]

MedGen UID:
7320
Concept ID:
C0023470
Neoplastic Process
6.

Chronic Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive

A phase of chronic myelogenous leukemia in which the peripheral blood smear shows leukocytosis due mainly to neutrophils in different stages of maturation. Blasts usually account for less than 2% of the white blood cells counts. The platelet count is normal or increased. Thrombocytopenia is very uncommon during the chronic phase. Most patients have mild anemia. The bone marrow biopsy is hypercellular due to increased numbers of neutrophils and their precursors. Blasts usually account for fewer than 5% of the marrow cells, and more than 10% indicates transformation to the accelerated phase. Megakaryocytes are smaller than normal and have hypolobated nuclei. The spleen is enlarged due to infiltration of the cords of the red pulp by granulocytes. Most patients with chronic myelogenous leukemia are diagnosed in the chronic phase, which usually has an insidious onset and may last from several months to several years. (WHO, 2001) [from NCI]

MedGen UID:
6060
Concept ID:
C0023474
Neoplastic Process
7.

Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive

An advanced phase of chronic myelogenous leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001). [from NCI]

MedGen UID:
2281
Concept ID:
C0005699
Neoplastic Process
8.

Crisis

MedGen UID:
533658
Concept ID:
C0231224
Finding
9.

Chronic myelogenous leukemia

A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. [from HPO]

MedGen UID:
505815
Concept ID:
CN004875
Finding
10.

Cancer Progression

A pathologic process in which alterations at the molecular level result in a more aggressive cytologic and phenotypic profile and clinical course of a malignant neoplasm. [from NCI]

MedGen UID:
364930
Concept ID:
C1947901
Pathologic Function
11.

Transformation

The conversion of a cell from a normal phenotype, which undergoes a limited number of mitotic divisions, into an aberrant phenotype that is immortal and divides indefinitely. Transformed cells no longer retain cell-cycle checkpoints and may ultimately become malignant cancer cells via additional genetic mutations, or damaging environmental events. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
12.

Polyposis

The development of numerous polyps (growths that protrude from a mucous membrane). [from NCI_NCI-GLOSS]

MedGen UID:
137722
Concept ID:
C0334108
Neoplastic Process
13.

Chronic

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

MedGen UID:
104657
Concept ID:
C0205191
Temporal Concept
14.

Patient immunosuppressed

A human or animal whose immunologic mechanism is deficient because of an immunodeficiency disorder or other disease or as the result of the administration of immunosuppressive drugs or radiation. [from MeSH]

MedGen UID:
39272
Concept ID:
C0085393
Finding
15.

Chronic myeloid leukemia

Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue (bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In chronic myeloid leukemia, the bone marrow produces too many white blood cells. Initially, these cells function relatively normally. However, as the condition progresses, immature white blood cells called myeloblasts (or blasts) accumulate in the blood and bone marrow. The overgrowth of myeloblasts impairs development of other blood cells, leading to a shortage of red blood cells (anemia) and platelets.Chronic myeloid leukemia usually begins after age 60. Common features include excessive tiredness (fatigue), fever, and weight loss. Many affected individuals develop an enlarged spleen (splenomegaly), which can cause a feeling of fullness in the abdomen and a loss of appetite. About half of people with chronic myeloid leukemia do not initially have any signs and symptoms and are diagnosed when a blood test is performed for another reason.The condition consists of three phases: the chronic phase, the accelerated phase, and the blast phase (or blast crisis). In the chronic phase, the number of mature white blood cells is elevated, and myeloblasts account for less than 10 percent of blood cells. Signs and symptoms of the condition during this phase are typically mild or absent and worsen slowly. The chronic phase can last from months to years. In the accelerated phase, the number of myeloblasts is slightly higher, making up 10 to 29 percent of blood cells. The signs and symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, although it is skipped in some affected individuals. In blast crisis, 30 percent or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are most severe in this phase, including a massively enlarged spleen, bone pain, and weight loss. Serious infections and uncontrolled bleeding can be life-threatening. [from GTR]

MedGen UID:
7321
Concept ID:
C0023473
Neoplastic Process
16.

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
17.

Carcinogenesis

A pathological process in which normal cells are transformed into malignant cancer cells within a primary tumor. [from NCI]

MedGen UID:
154544
Concept ID:
C0596263
Neoplastic Process
18.

Neoplastic Processes

The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity. [from MeSH]

MedGen UID:
14325
Concept ID:
C0027671
Neoplastic Process
19.

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
20.

Chronic Monocytic Leukemia

MedGen UID:
9729
Concept ID:
C0023466
Neoplastic Process
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