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Items: 1 to 20 of 47

1.

Glutamic acid

A non-essential amino acid naturally occurring in the L-form. Glutamic acid is the most common excitatory neurotransmitter in the CENTRAL NERVOUS SYSTEM. [from MeSH]

MedGen UID:
29630
Concept ID:
C0061472
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
3.

Cardiomyopathy

A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. [from NCI]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
4.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
165802
Concept ID:
C0887941
Genetic Function
5.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]

MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
6.

Hypertension

Blood pressure that is abnormally high. [from NCI]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
7.

Cardiac arrhythmia

A disorder in which there is abnormal electrical activity in the heart. [from SNOMEDCT_US]

MedGen UID:
2039
Concept ID:
C0003811
Finding; Finding
8.

Hypertension

A finding of increased blood pressure; not necessarily hypertensive disorder [from SNOMEDCT_US]

MedGen UID:
635666
Concept ID:
C0497247
Finding
9.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
10.

Dilated cardiomyopathy

Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. [from HPO]

MedGen UID:
504887
Concept ID:
CN001497
Finding
11.

Diabetes mellitus

A group of abnormalities characterized by hyperglycemia and glucose intolerance. [from HPO]

MedGen UID:
504609
Concept ID:
CN000766
Finding
12.

Pulmonary arterial hypertension

Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. [from HPO]

MedGen UID:
468368
Concept ID:
C3203102
Disease or Syndrome
13.

Generalized hypotonia

Generalized muscular hypotonia (abnormally low muscle tone). [from HPO]

MedGen UID:
346841
Concept ID:
C1858120
Finding
14.

Severe muscular hypotonia

A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. [from HPO]

MedGen UID:
326544
Concept ID:
C1839630
Finding
15.

ECG abnormality

Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. [from HPO]

MedGen UID:
321993
Concept ID:
C1832603
Finding
16.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
17.

Dilated cardiomyopathy 1A

LMNA-related dilated cardiomyopathy (DCM) is caused by pathogenic variants in LMNA and is characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias. LMNA-related DCM usually presents in early to mid-adulthood with symptomatic conduction system disease or arrhythmias, or with symptomatic DCM including heart failure or embolus from a left ventricular mural thrombus. Sudden cardiac death can occur, and in some instances is the presenting manifestation; sudden cardiac death may occur with minimal or no systolic dysfunction. [from GTR]

MedGen UID:
258500
Concept ID:
C1449563
Disease or Syndrome
18.

Arrhythmia

An electrocardiographic finding of a change in cardiac electrical activity. [from NCI]

MedGen UID:
167788
Concept ID:
C0855329
Finding
19.

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
20.

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
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