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Items: 1 to 20 of 29

1.

Erythrocytosis

Abnormally high level of red blood cells in the blood.(NICHD) [from NCI]

MedGen UID:
282903
Concept ID:
C1527405
Finding
2.

Paraganglioma

A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. [from NCI]

MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
3.

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
4.

Erythrocytosis, familial, 2

Familial erythrocytosis-2 is an autosomal recessive disorder characterized by increased red blood cell mass, increased serum levels of erythropoietin (EPO; 133170), and normal oxygen affinity. Patients with ECYT2 carry a high risk for peripheral thrombosis and cerebrovascular events (Cario, 2005). Familial erythrocytosis-2 has features of both primary and secondary erythrocytosis. In addition to increased circulating levels of EPO, consistent with a secondary, extrinsic process, erythroid progenitors are also hypersensitive to EPO, consistent with a primary, intrinsic process (Prchal, 2005). [from GTR]

MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
5.

Hypoxia

A decrease in the amount of oxygen in the body. Symptoms range from mild (impaired judgment, memory loss, impaired motor coordination) to severe (seizures and coma). [from NCI]

MedGen UID:
66846
Concept ID:
C0242184
Pathologic Function
6.

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
7.

Primary familial polycythemia

Primary familial polycythemia is an inherited hematological disorder resulting from mutations in the erythropoietin (EPO) receptor and is characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production in the presence of low EPO levels. [from ORDO]

MedGen UID:
798439
Concept ID:
CN206366
Congenital Abnormality
8.

Proliferation

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
9.

Familial erythrocytosis

Polycythemia that occurs in groups of related individuals. [from NCI]

MedGen UID:
57520
Concept ID:
C0152264
Disease or Syndrome
10.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
11.

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
12.

Therapy-Related Neoplasm

The development of a neoplasm in response to medical or surgical treatment, induced by the treatment itself. [from NCI]

MedGen UID:
88608
Concept ID:
C0086696
Neoplastic Process
13.

Neoplasms, Second Primary

Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause. [from MeSH]

MedGen UID:
88350
Concept ID:
C0085183
Neoplastic Process
14.

Neuroendocrine neoplasm

A benign or malignant neoplasm composed of cells of neuroendocrine origin. Representative examples include paraganglioma, carcinoid tumor, and neuroendocrine carcinoma. [from NCI]

MedGen UID:
64652
Concept ID:
C0206754
Neoplastic Process
15.

Neuroectodermal neoplasm

A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells. [from HPO]

MedGen UID:
60072
Concept ID:
C0206093
Neoplastic Process
16.

Embryonal neoplasm

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 [from NCI]

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
17.

Mediastinal Neoplasm

A benign or malignant neoplasm that affects the structures of the mediastinum. Representative examples include mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. [from NCI]

MedGen UID:
44322
Concept ID:
C0025063
Neoplastic Process
18.

Disorder of mediastinum

A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma. [from NCI]

MedGen UID:
44321
Concept ID:
C0025061
Disease or Syndrome
19.

Diseases, Respiratory Tract

Diseases involving the RESPIRATORY SYSTEM. [from MeSH]

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome
20.

Polycythaemia

Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume.(NICHD) [from NCI]

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
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