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Items: 1 to 20 of 38

1.

Huntington 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
2.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
3.

Guanosine

A purine nucleoside that has guanine linked by its N9 nitrogen to the C1 carbon of ribose. It is a component of ribonucleic acid and its nucleotides play important roles in metabolism. (From Dorland, 28th ed) [from MeSH]

MedGen UID:
9106
Concept ID:
C0018330
Nucleic Acid, Nucleoside, or Nucleotide; Pharmacologic Substance
4.

Cystamine

A radiation-protective agent that interferes with sulfhydryl enzymes. It may also protect against carbon tetrachloride liver damage. [from MeSH]

MedGen UID:
1201
Concept ID:
C0010637
Organic Chemical; Pharmacologic Substance
5.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Neoplastic Process
6.

Pathogenesis

specific processes that generate the ability of an organism to cause disease [from CHV]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
7.

Neurocognitive disorder

A disorder characterized by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. [from SNOMEDCT_US]

MedGen UID:
873945
Concept ID:
C4041080
Mental or Behavioral Dysfunction
8.

Inborn genetic diseases

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
9.

Paroxysmal dyskinesia

Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. [from HPO]

MedGen UID:
156242
Concept ID:
C0752210
Disease or Syndrome
10.

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
11.

Ballism

MedGen UID:
148467
Concept ID:
C0752196
Disease or Syndrome
12.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
13.

Asterixis

A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. [from HPO]

MedGen UID:
115916
Concept ID:
C0232766
Sign or Symptom
14.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
15.

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
Finding; Mental or Behavioral Dysfunction
16.

Hemiballismus

Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. [from HPO]

MedGen UID:
67443
Concept ID:
C0221169
Disease or Syndrome; Finding
17.

Chronic progressive non-hereditary chorea

MedGen UID:
66759
Concept ID:
C0238056
Disease or Syndrome
18.

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
19.

Diaminodiethyldisulfide

MedGen UID:
43289
Concept ID:
C0086147
Organic Chemical; Pharmacologic Substance
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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