Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 18

1.

Oxygen

An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration. [from MeSH]

MedGen UID:
45267
Concept ID:
C0030054
Pharmacologic Substance
2.

Erythrocytosis

Peripheral blood red cell count above the normal range [from SNOMED CT]

MedGen UID:
282903
Concept ID:
C1527405
Disease or Syndrome
3.

Ubiquitination

The process in which one or more ubiquitin groups are added to a protein. [GOC:ai] [from GO]

MedGen UID:
276919
Concept ID:
C1519751
Molecular Function
4.

Hypoxia

A condition in which there is a decrease in the oxygen supply to a tissue. In cancer treatment, the level of hypoxia in a tumor may help predict the response of the tumor to the treatment. [from NCI]

MedGen UID:
66846
Concept ID:
C0242184
Pathologic Function
5.

Erythropoietin

a hormone produced in the adult kidney [from CHV]

MedGen UID:
41863
Concept ID:
C0014822
Pharmacologic Substance
6.

Polycythemia

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

MedGen UID:
18552
Concept ID:
C0032461
Disease or Syndrome
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
Disease or Syndrome
8.

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
9.

Von Hippel-Lindau

MedGen UID:
490007
Concept ID:
CN169367
Disease or Syndrome
10.

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 OMIM]

MedGen UID:
332974
Concept ID:
C1837915
Disease or Syndrome
11.

Hypocalcemia, autosomal dominant

Garfield and Karaplis (2001) reviewed the various causes and clinical forms of hypoparathyroidism. They noted that hypoparathyroidism is a clinical disorder characterized by hypocalcemia and hyperphosphatemia. It manifests when parathyroid hormone (PTH; 168450) secreted from the parathyroid glands is insufficient to maintain normal extracellular fluid calcium concentrations or, less commonly, when PTH is unable to function optimally in target tissues, despite adequate circulating levels. Congenital absence of the parathyroid and thymus glands (III and IV pharyngeal pouch syndrome, or DiGeorge syndrome, 188400) is usually a sporadic condition (Taitz et al., 1966). [from OMIM]

MedGen UID:
322005
Concept ID:
C1832648
Disease or Syndrome
12.

Familial erythrocytosis

MedGen UID:
57520
Concept ID:
C0152264
Disease or Syndrome
13.

Von Hippel-Lindau syndrome

Von Hippel-Lindau (VHL) disease is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL disease and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cysts of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility. [from GeneReviews]

MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
14.

prolyl 4-hydroxylase activity

MedGen UID:
760453
Concept ID:
C1622631
Molecular Function
15.

Up-Regulation (Physiology)

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
16.

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
17.

Hematological Disease

A neoplastic or non-neoplastic disorder that affects the production and proliferation of the hematopoietic cells including lymphoid cells, the synthesis of hemoglobin, and/or the mechanisms of coagulation. [from NCI]

MedGen UID:
5483
Concept ID:
C0018939
Disease or Syndrome
18.

Polycythemia due to hypoxia

MedGen UID:
163546
Concept ID:
C0856818
Disease or Syndrome

Display Settings:

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...