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1.

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 GTR]

MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
2.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
3.

primary myelofibrosis

MedGen UID:
851269
Concept ID:
CN232337
Finding
4.

Myelofibrosis

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

MedGen UID:
506636
Concept ID:
CN167700
Finding
5.

Myelofibrosis with myeloid metaplasia

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
6.

Uniparental Disomy

A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome. [from NCI]

MedGen UID:
181871
Concept ID:
C0949628
Cell or Molecular Dysfunction
7.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
8.

Complex Karyotype

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

MedGen UID:
474886
Concept ID:
C3273253
Cell or Molecular Dysfunction
9.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
10.

Platelet membrane fluidity

MedGen UID:
401393
Concept ID:
C1868201
Finding
11.

5q- syndrome

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). [from GTR]

MedGen UID:
196625
Concept ID:
C0740302
Disease or Syndrome
12.

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
13.

Base Pair

Pairing of purine and pyrimidine bases by HYDROGEN BONDING in double-stranded DNA or RNA. [from MeSH]

MedGen UID:
108706
Concept ID:
C0600436
Molecular Function
14.

Lesion

A localized pathological or traumatic structural change, damage, deformity, or discontinuity of tissue, organ, or body part. [from NCI]

MedGen UID:
65128
Concept ID:
C0221198
Finding
15.

Allelic Imbalance

Any variance from the expected 1:1 ratio for the expression of the two inherited parental alleles for the same gene. [from NCI]

MedGen UID:
168420
Concept ID:
C0887935
Cell or Molecular Dysfunction
16.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
17.

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
18.

Heredity

The transmission of traits encoded in GENES from parent to offspring. [from MeSH]

MedGen UID:
6814
Concept ID:
C0019266
Molecular Function
19.

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
20.

Hematologic disease

An abnormality of the hematopoietic system. [from HPO]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
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