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Results: 1 to 20 of 31

1.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
2.

Huntington's chorea

Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset. [from GeneReviews]

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
3.

Threonine

An essential amino acid occurring naturally in the L-form, which is the active form. It is found in eggs, milk, gelatin, and other proteins. [from MeSH]

MedGen UID:
52734
Concept ID:
C0040005
Pharmacologic Substance
4.

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
Pharmacologic Substance
5.

Insulin

Insulin (51 aa, ~6 kDa) is encoded by the human INS gene. This protein is involved in the direct regulation of glucose metabolism. [from NCI]

MedGen UID:
5827
Concept ID:
C0021641
Pharmacologic Substance
6.

Able

MedGen UID:
721424
Concept ID:
C1299581
Finding
7.

Genetic Diseases, Inborn

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
8.

Dyskinesias, Paroxysmal

MedGen UID:
156242
Concept ID:
C0752210
Disease or Syndrome
9.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
10.

Ballism

MedGen UID:
148467
Concept ID:
C0752196
Disease or Syndrome
11.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
12.

Asterixis

A tremor of the wrist that is observed when the wrist is extended. [from NCI]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
13.

Neurodegenerative Disorders

Neurodegenerative disorders, such as Hunter syndrome, or sensory motor neuropathies, such as Friedreich ataxia and Charcot-Marie-Tooth syndrome. [from LNC]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
14.

Dementia

Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
99229
Concept ID:
C0497327
Disease or Syndrome
15.

Hemiballism

MedGen UID:
67443
Concept ID:
C0221169
Sign or Symptom
16.

Chronic progressive non-hereditary chorea

MedGen UID:
66759
Concept ID:
C0238056
Disease or Syndrome
17.

Rheumatic chorea

acute, usually self-limited disorder of early life, usually between ages 5 and 15, or during pregnancy, and closely linked with rheumatic fever; characterized by involuntary movements that gradually become severe, affecting all motor activities including gait, arm movements, and speech; called also Sydenham's, acute, juvenile, or simple chorea, or St. Vitus dance. [from CRISP]

MedGen UID:
57506
Concept ID:
C0152113
Disease or Syndrome
18.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
19.

Enzyme activation

Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme. [from MeSH]

MedGen UID:
41819
Concept ID:
C0014429
Molecular Function
20.

Cognitive disorder

disturbances in the mental process related to thinking, reasoning, and judgment. [from CRISP]

MedGen UID:
40371
Concept ID:
C0009241
Mental or Behavioral Dysfunction

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