Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 20

1.

Myeloproliferative disorder

Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. [from HPO]

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

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
3.

Hyperplasia

An abnormal increase in the number of cells in an organ or tissue. [from NCI]

MedGen UID:
43784
Concept ID:
C0020507
Pathologic Function
4.

Polycythaemia

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:
18552
Concept ID:
C0032461
Disease or Syndrome
5.

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
6.

Myelofibrosis

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

MedGen UID:
506636
Concept ID:
CN167700
Finding
7.

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
8.

JAK2 Gene Mutation

Mutation of the Janus 2 kinase gene at chromosome 9. It is seen in most patients with polycythemia vera and less frequently in other myeloproliferative neoplasms. [from NCI]

MedGen UID:
415974
Concept ID:
C2827348
Cell or Molecular Dysfunction
9.

Thrombocytosis

Increased numbers of platelets in the peripheral blood. [from HPO]

MedGen UID:
163397
Concept ID:
C0836924
Disease or Syndrome
10.

Myelofibrosis with myeloid metaplasia

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

MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
11.

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
12.

Hematologic neoplasm

Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). [from HPO]

MedGen UID:
138213
Concept ID:
C0376545
Neoplastic Process
13.

Bone Marrow Neoplasm

Neoplasms that affect the bone marrow. Such neoplasms may arise in the bone marrow (e.g. myeloid leukemias) or may involve the bone marrow as secondary, metastatic tumors (e.g. metastatic carcinomas to the bone marrow). [from NCI]

MedGen UID:
129203
Concept ID:
C0282609
Neoplastic Process
14.

Haemorrhagic disorders

spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (vascular hemostatic disorders). [from CRISP]

MedGen UID:
6799
Concept ID:
C0019087
Disease or Syndrome
15.

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
16.

Hematologic disease

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include. -Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots. -Anemia, which happens when your blood does not carry enough oxygen to the rest of your body. -Cancers of the blood, such as leukemia and myeloma. -Eosinophilic disorders, which are problems with one type of white blood cell.  [from MedlinePlus]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
17.

Bone marrow disorder

Bone marrow is the spongy tissue inside some of your bones, such as your hip and thigh bones. It contains immature cells, called stem cells. The stem cells can develop into the red blood cells that carry oxygen through your body, the white blood cells that fight infections, and the platelets that help with blood clotting. . If you have a bone marrow disease, there are problems with the stem cells or how they develop. Leukemia is a cancer in which the bone marrow produces abnormal white blood cells. With aplastic anemia, the bone marrow doesn't make red blood cells. Other diseases, such as lymphoma, can spread into the bone marrow and affect the production of blood cells. Other causes of bone marrow disorders include your genetic makeup and environmental factors. Symptoms of bone marrow diseases vary. Treatments depend on the disorder and how severe it is. They might involve medicines, blood transfusions or a bone marrow transplant. .  [from MedlinePlus]

MedGen UID:
2311
Concept ID:
C0005956
Disease or Syndrome
18.

Platelet disorder

Platelets are little pieces of blood cells. Platelets help wounds heal and prevent bleeding by forming blood clots. Your bone marrow makes platelets. Problems can result from having too few or too many platelets, or from platelets that do not work properly. . If your blood has a low number of platelets, you can be at risk for mild to serious bleeding. If your blood has too many platelets, you may have a higher risk of blood clots. With other platelet disorders, the platelets do not work as they should. For example, in von Willebrand Disease, the platelets cannot stick together or cannot attach to blood vessel walls. This can cause excessive bleeding. . Treatment of platelet disorders depends on the cause. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
610
Concept ID:
C0005818
Disease or Syndrome
19.

Abnormality of the coagulation cascade

Disorders involving the elements of blood coagulation, including platelets, coagulation factors and inhibitors, and the fibrinolytic system [from SNOMED CT]

MedGen UID:
604
Concept ID:
C0005779
Disease or Syndrome
20.

Marrow megakaryocytes normal

MedGen UID:
614052
Concept ID:
C0438132
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center