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Items: 1 to 20 of 52

1.

Glioblastoma

A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. [from MeSH]

MedGen UID:
42228
Concept ID:
C0017636
Neoplastic Process
2.

Glioblastoma

MedGen UID:
832786
Concept ID:
CN227279
Disease or Syndrome
3.

Glioblastoma

MedGen UID:
506549
Concept ID:
CN117732
Finding
4.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
5.

Glioblastoma multiforme

A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. [from HPO]

MedGen UID:
301585
Concept ID:
C1621958
Neoplastic Process
6.

Threonine

An essential amino acid in humans (provided by food), Threonine is an important residue of many proteins, such as tooth enamel, collagen, and elastin. An important amino acid for the nervous system, threonine also plays an important role in porphyrin and fat metabolism and prevents fat buildup in the liver. Useful with intestinal disorders and indigestion, threonine has also been used to alleviate anxiety and mild depression. (NCI04) [from NCI]

MedGen UID:
52734
Concept ID:
C0040005
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
7.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
8.

Glioma

A benign or malignant brain and spinal cord tumor that arises from glial cells (astrocytes, oligodendrocytes, ependymal cells). Tumors that arise from astrocytes are called astrocytic tumors or astrocytomas. Tumors that arise from oligodendrocytes are called oligodendroglial tumors. Tumors that arise from ependymal cells are called ependymomas. [from NCI]

MedGen UID:
9030
Concept ID:
C0017638
Neoplastic Process
9.

Down-regulation

A negative 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:
4386
Concept ID:
C0013081
Molecular Function
10.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
11.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
12.

Glioma

The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). [from HPO]

MedGen UID:
506305
Concept ID:
CN008593
Finding
13.

POLYCYSTIC KIDNEY DISEASE 1

MedGen UID:
461191
Concept ID:
C3149841
Disease or Syndrome
14.

Polycystic kidney disease 2

Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by: bilateral renal cysts; cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane; vascular abnormalities including intracranial aneurysms, dilatation of the aortic root, and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Renal manifestations include hypertension, renal pain, and renal insufficiency. Approximately 50% of individuals with ADPKD have end-stage renal disease (ESRD) by age 60 years. The prevalence of liver cysts, the most common extrarenal manifestation of ADPKD, increases with age and may have been underestimated by ultrasound studies. The prevalence of intracranial aneurysms is higher in those with a positive family history of aneurysms or subarachnoid hemorrhage (22%) than in those without such a family history (6%). Mitral valve prolapse, the most common valvular abnormality, occurs in up to 25% of affected individuals. Substantial variability in severity of renal disease and other extrarenal manifestations occurs even within the same family. [from GTR]

MedGen UID:
442699
Concept ID:
C2751306
Disease or Syndrome
15.

Dystonia 10

Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males. [from GTR]

MedGen UID:
358268
Concept ID:
C1868682
Disease or Syndrome
16.

Positive

Involving advantage or good. [from NCI]

MedGen UID:
254858
Concept ID:
C1446409
Finding
17.

Proliferation

MedGen UID:
137720
Concept ID:
C0334094
Pathologic Function
18.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
19.

Mediator

An agent that acts as a link between parties, objects, or actions. [from NCI]

MedGen UID:
93010
Concept ID:
C0127400
Organic Chemical; Pharmacologic Substance
20.

Polycystic kidney disease, adult type

Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by: bilateral renal cysts; cysts in other organs including the liver, seminal vesicles, pancreas, and arachnoid membrane; vascular abnormalities including intracranial aneurysms, dilatation of the aortic root, and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Renal manifestations include hypertension, renal pain, and renal insufficiency. Approximately 50% of individuals with ADPKD have end-stage renal disease (ESRD) by age 60 years. The prevalence of liver cysts, the most common extrarenal manifestation of ADPKD, increases with age and may have been underestimated by ultrasound studies. The prevalence of intracranial aneurysms is higher in those with a positive family history of aneurysms or subarachnoid hemorrhage (22%) than in those without such a family history (6%). Mitral valve prolapse, the most common valvular abnormality, occurs in up to 25% of affected individuals. Substantial variability in severity of renal disease and other extrarenal manifestations occurs even within the same family. [from GTR]

MedGen UID:
88404
Concept ID:
C0085413
Congenital Abnormality; Disease or Syndrome
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