Display Settings:

Format
Items per page

Send to:

Choose Destination

Results: 1 to 20 of 31

1.

Schizophrenia

Schizophrenia is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. There is no characteristic pathology, such as neurofibrillary tangles in Alzheimer disease (104300). Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. This may not be a single entity. Reviews In a review of schizophrenia, van Os and Kapur (2009) noted that in Japan the term schizophrenia was abandoned and the illness is now called integration-dysregulation syndrome. [from OMIM]

MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
2.

Acetylcholine

A chemical made by some types of nerve cells. It is used to send messages to other cells, including other nerve cells, muscle cells, and gland cells. It is released from the nerve ending and carries signals to cells on the other side of a synapse (space between nerve cells and other cells). Acetylcholine helps control memory and the action of certain muscles. It is a type of neurotransmitter. [from NCI]

MedGen UID:
7841
Concept ID:
C0001041
Pharmacologic Substance
3.

Glycine

A non-essential, non-polar, non-optical, glucogenic amino acid. Glycine, an inhibitory neurotransmitter in the CNS, triggers chloride ion influx via ionotropic receptors, thereby creating an inhibitory post-synaptic potential. In contrast, this agent also acts as a co-agonist, along with glutamate, facilitating an excitatory potential at the glutaminergic N-methyl-D-aspartic acid (NMDA) receptors. Glycine is an important component and precursor for many macromolecules in the cells. [from NCI]

MedGen UID:
6636
Concept ID:
C0017890
Pharmacologic Substance
4.

Hyperekplexia

MedGen UID:
833205
Concept ID:
CN203544
Finding
5.

Adult

From 19 to 65 years of life. [from ORDO]

MedGen UID:
832807
Concept ID:
CN227396
Disease or Syndrome
6.

Hereditary hyperekplexia

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. [from ORDO]

MedGen UID:
798205
Concept ID:
CN203978
Congenital Abnormality
7.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
8.

Has "spasms"

MedGen UID:
605397
Concept ID:
C0427091
Finding
9.

Schizophrenia

A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. [from HPO]

MedGen UID:
506532
Concept ID:
CN117643
Finding
10.

Exaggerated startle response

An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. [from HPO]

MedGen UID:
505176
Concept ID:
CN002058
Finding
11.

Hyperactivity

MedGen UID:
504585
Concept ID:
CN000708
Finding
12.

Null Allele

A mutation that results in either no gene product or the absence of function at the phenotypic level. [from NCI]

MedGen UID:
457663
Concept ID:
C2985437
Cell or Molecular Dysfunction
13.

Hyperekplexia

Hereditary hyperekplexia (HPX) is characterized by generalized stiffness immediately after birth that normalizes during the first years of life; excessive startle reflex (eye blinking and a flexor spasm of the trunk) to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness following the startle response during which voluntary movements are impossible. Exaggerated head-retraction reflex (HRR) consisting of extension of the head followed by violent flexor spasms of limbs and neck muscles elicited by tapping the tip of the nose is observed in most children. Other findings include periodic limb movements in sleep (PLMS) and hypnagogic (occurring when falling asleep) myoclonus. Sudden infant death (SIDS) has been reported. Intellect is usually normal; mild intellectual disability may occur. [from GeneReviews]

MedGen UID:
433380
Concept ID:
CN068931
Disease or Syndrome
14.

Anxiety

MedGen UID:
409544
Concept ID:
C1963064
Finding
15.

Anxiety

Human personality is shaped by genetic and environmental factors, and evidence suggests that the genetic component is highly complex, polygenic, and epistatic. Genetic factors are thought to contribute to 40 to 60% of trait variance. Molecular genetics has tried to identify specific genes for quantitative traits, called quantitative trait loci (QTLs). The QTL concept suggests that complex personality traits or dimensions are not attributable to single genes, but to multiple interacting genes (Reif and Lesch, 2003). Fullerton et al. (2003) stated that psychologists were in agreement that the wide variation in human personalities can be explained by a small number of personality factors, including neuroticism (a measure of emotional stability), which manifests at one extreme as anxiety, depression, moodiness, low self-esteem, and diffidence. They cited a number of studies that had described a relationship between high scores on measures of neuroticism and major depressive disorder. They also noted that theoretical studies had suggested that large samples of randomly ascertained sibs could be used to ascertain phenotypically extreme individuals and thereby increase power to detect genetic linkage in complex traits. See also panic disorder (PAND1; 167870), which is a subtype of anxiety disorder. [from OMIM]

MedGen UID:
335849
Concept ID:
C1842981
Disease or Syndrome
16.

Hyperekplexia hereditary

Hereditary hyperekplexia (HPX) is characterized by generalized stiffness immediately after birth that normalizes during the first years of life; excessive startle reflex (eye blinking and a flexor spasm of the trunk) to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness following the startle response during which voluntary movements are impossible. Exaggerated head-retraction reflex (HRR) consisting of extension of the head followed by violent flexor spasms of limbs and neck muscles elicited by tapping the tip of the nose is observed in most children. Other findings include periodic limb movements in sleep (PLMS) and hypnagogic (occurring when falling asleep) myoclonus. Sudden infant death (SIDS) has been reported. Intellect is usually normal; mild intellectual disability may occur. [from GeneReviews]

MedGen UID:
332019
Concept ID:
C1835614
Disease or Syndrome
17.

Functional disorder

Deranged function in an individual or an organ that is due to a disease. (MedicineNet.com) [from NCI]

MedGen UID:
124450
Concept ID:
C0277785
Pathologic Function
18.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
19.

Hyperactive behavior

Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders. [from MeSH]

MedGen UID:
98406
Concept ID:
C0424295
Finding
20.

disease transmission

Transmission of disease from one individual to another. [from PSY]

MedGen UID:
66979
Concept ID:
C0242781
Pathologic Function

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...