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Items: 1 to 20 of 25

1.

Phosphate

PO4(3-). [from CRISP]

MedGen UID:
737350
Concept ID:
C1601799
Element, Ion, or Isotope; Pharmacologic Substance
2.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
3.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
4.

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
5.

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
6.

Normal growth

MedGen UID:
154370
Concept ID:
C0578019
Finding
7.

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
8.

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
9.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
10.

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
11.

Carbohydrate Metabolic Process

Processes concerned with the synthesis, breakdown, and oxidation of carbohydrates in the tissues. [from NCI]

MedGen UID:
86224
Concept ID:
C0302820
Molecular Function
12.

Disease, Secondary Myocardial

MedGen UID:
19916
Concept ID:
C0036529
Disease or Syndrome
13.

Idiopathic cardiomyopathy

A disease of the heart muscle or myocardium proper whose cause is unknown. [from NCI]

MedGen UID:
18634
Concept ID:
C0033141
Disease or Syndrome
14.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
15.

Cardiomegaly

Abnormal enlargement of the heart. [from NCI]

MedGen UID:
5459
Concept ID:
C0018800
Finding
16.

Heart disease

A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma. [from NCI]

MedGen UID:
5458
Concept ID:
C0018799
Disease or Syndrome
17.

Primary dilated cardiomyopathy

Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal nocturnal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke. [from GTR]

MedGen UID:
2880
Concept ID:
C0007193
Disease or Syndrome
18.

Disorder of cardiovascular system

A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. [from NCI]

MedGen UID:
2848
Concept ID:
C0007222
Disease or Syndrome
19.

Alcohol

A class of compounds where a hydroxyl (OH) group is attached to single bonded hydrocarbons. Alcohols are classified according to the position of the carbon atom with the attached hydroxyl group (i.e. primary alcohols are alcohols with the OH group attached to the primary carbon atom, C1). Uses include solvents, astringents, and anti-infective activity. [from NCI]

MedGen UID:
1400
Concept ID:
C0001975
Organic Chemical; Pharmacologic Substance
20.

Skin normal temperature

MedGen UID:
658437
Concept ID:
C0574750
Finding
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