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Results: 1 to 20 of 46

1.

Polycythemia vera

Polycythemia vera, the most common form of primary polycythemia, is caused by somatic mutation in a single hematopoietic stem cell leading to clonal hematopoiesis. PV is a myeloproliferative disorder characterized predominantly by erythroid hyperplasia, but also by myeloid leukocytosis, thrombocytosis, and splenomegaly. Familial cases of PV are very rare and usually manifest in elderly patients (Cario, 2005). PV is distinct from the familial erythrocytoses (see, e.g., ECYT1, 133100), which are caused by inherited mutations resulting in hypersensitivity of erythroid progenitors to hormonal influences or increased levels of circulating hormones, namely erythropoietin (EPO; 133170) (Prchal, 2005). [from OMIM]

MedGen UID:
45996
Concept ID:
C0032463
Neoplastic Process
2.

Polycythemia

an abnormal increase of the red blood cell in the circulating blood [from CHV]

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
3.

Myelofibrosis

Replacement of bone marrow by fibrous tissue. [from HPO]

MedGen UID:
506636
Concept ID:
CN167700
Finding
4.

Polycythemia

Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. [from HPO]

MedGen UID:
504995
Concept ID:
CN001719
Finding
5.

Error occurred: cannot get document summary

ID:
449856

6.

Chronic

A disease or condition that persists or progresses over a long period of time. [from NCI]

MedGen UID:
104657
Concept ID:
C0205191
7.

Essential thrombocythemia

Thrombocythemia, or thrombocytosis, is a myeloproliferative disorder characterized by excessive platelet production resulting in increased numbers of circulating platelets. Thrombocythemia can be associated with thrombotic or hemorrhagic episodes and occasional leukemic transformation (summary by Wiestner et al., 1998). Genetic Heterogeneity of Thrombocythemia THCYT2 (601977) is caused by germline or somatic mutation in the THPO receptor gene (MPL; 159530) on chromosome 1p34; THCYT3 (614521) is caused by germline or somatic mutation in the JAK2 gene (147796) on chromosome 9p; and a possible X-linked form (THCYTX; 300331) has been reported. Somatic mutations in the TET2 (612839), ASXL1 (612990), SH2B3 (605093), and SF3B1 (605590) genes have also been found in cases of essential thrombocythemia. Somatic mutation in the CALR gene (109091) occurs in approximately 70% of essential thrombocythemia patients who lack JAK2 and MPL mutations (Klampfl et al., 2013; Nangalia et al., 2013). [from OMIM]

MedGen UID:
11797
Concept ID:
C0040028
Disease or Syndrome
8.

Myelofibrosis

A partial or complete replacement of the bone marrow stroma by fibrous tissue. It can be a primary bone marrow lesion as part of the chronic myeloproliferative disorders (chronic idiopathic myelofibrosis), a manifestation of acute myeloid leukemia (acute panmyelosis with myelofibrosis), or a secondary phenomenon due to bone marrow involvement by a metastatic tumor (e.g., metastatic breast carcinoma). --2003 [from NCI]

MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
9.

Myelofibrosis

Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis. Initially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising. Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain. Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
[from GHR]

MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
10.

Neoplasm

A general term for autonomous tissue growth in which the malignancy status has not been established and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
10294
Concept ID:
C0027651
Neoplastic Process
11.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
12.

disease

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
13.

Infective dermatitis associated with HTLV-1

MedGen UID:
797354
Concept ID:
CN202966
Disease or Syndrome
14.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
15.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
16.

Complex Karyotype

Karyotype with at least three chromosomal aberrations. [from NCI]

MedGen UID:
474886
Concept ID:
C3273253
Cell or Molecular Dysfunction
17.

Platelet membrane fluidity

MedGen UID:
401393
Concept ID:
C1868201
Finding
18.

Worse

Condition changed and worsened [from CCC]

MedGen UID:
264163
Concept ID:
C1457868
Finding
19.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
20.

Thrombocytosis

Increased numbers of platelets in the peripheral blood. (Dorland, 27th ed) [from MeSH]

MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome

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