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1.

Angiotensin II

An octapeptide that is a potent but labile vasoconstrictor. It is produced from angiotensin I after the removal of two amino acids at the C-terminal by ANGIOTENSIN CONVERTING ENZYME. The amino acid in position 5 varies in different species. To block VASOCONSTRICTION and HYPERTENSION effect of angiotensin II, patients are often treated with ACE INHIBITORS or with ANGIOTENSIN II TYPE 1 RECEPTOR BLOCKERS. [from MeSH]

MedGen UID:
1932
Concept ID:
C0003009
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Angiotensin

Oligopeptides which are important in the regulation of blood pressure (VASOCONSTRICTION) and fluid homeostasis via the RENIN-ANGIOTENSIN SYSTEM. These include angiotensins derived naturally from precursor ANGIOTENSINOGEN, and those synthesized. [from MeSH]

MedGen UID:
1548
Concept ID:
C0003018
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Marfan syndrome

Marfan syndrome is a systemic disorder of connective tissue with a high degree of clinical variability. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. FBN1 pathogenic variants associate with a broad phenotypic continuum, ranging from isolated features of Marfan syndrome to neonatal presentation of severe and rapidly progressive disease in multiple organ systems. Myopia is the most common ocular feature; displacement of the lens from the center of the pupil, seen in approximately 60% of affected individuals, is a hallmark feature. People with Marfan syndrome are at increased risk for retinal detachment, glaucoma, and early cataract formation. The skeletal system involvement is characterized by bone overgrowth and joint laxity. The extremities are disproportionately long for the size of the trunk (dolichostenomelia). Overgrowth of the ribs can push the sternum in (pectus excavatum) or out (pectus carinatum). Scoliosis is common and can be mild or severe and progressive. The major sources of morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system. Cardiovascular manifestations include dilatation of the aorta at the level of the sinuses of Valsalva, a predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population. [from GeneReviews]

MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
4.

Prolapse

The protrusion of an organ or part of an organ into a natural or artificial orifice. [from MeSH]

MedGen UID:
18667
Concept ID:
C0033377
Disease or Syndrome
5.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Phosphorylation

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

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
7.

Orthostatic intolerance

Mitral valve prolapse (MVP) occurs when one of your heart's valves doesn't work properly. The flaps of the valve are floppy and don't close tightly. Most people who have the condition are born with it. It also tends to run in families. Most of the time, MVP doesn't cause any problems. Rarely, blood can leak the wrong way through the floppy valve. This can cause. -Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast). -Shortness of breath. -Cough. -Fatigue, dizziness, or anxiety. -Migraine headaches. -Chest discomfort. Most people who have mitral valve prolapse (MVP) don't need treatment because they don't have symptoms and complications. If you need treatment for MVP, medicines can help relieve symptoms or prevent complications. Very few people will need surgery to repair or replace the mitral valve. MVP puts you at risk for infective endocarditis, a kind of heart infection. To prevent it, doctors used to prescribe antibiotics before dental work or certain surgeries. Now, only people at high risk of endocarditis need the antibiotics. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
7671
Concept ID:
C0026267
Disease or Syndrome
8.

Heart failure

Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes. -Blood and fluid to back up into the lungs. -The buildup of fluid in the feet, ankles and legs - called edema. -Tiredness and shortness of breath. Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
9.

Heart Failure

MedGen UID:
880986
Concept ID:
CN236639
Disease or Syndrome
10.

symptomatic

MedGen UID:
880232
Concept ID:
CN235625
Finding
11.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
12.

Mitral valve prolapse

One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. [from HPO]

MedGen UID:
504880
Concept ID:
CN001487
Finding
13.

Regurgitation

Backward flow of refluxed gastric content into the mouth or hypopharynx. [from SNOMEDCT_US]

MedGen UID:
389155
Concept ID:
C2004489
Sign or Symptom
14.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
15.

Pathogenesis

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

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
16.

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
17.

Examined for

Having been subjected to inspection or evaluation. [from NCI]

MedGen UID:
83047
Concept ID:
C0332128
Finding
18.

Congestive heart failure

The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. [from HPO]

MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
19.

Mitral regurgitation

backflow of blood from the left ventricle into the left atrium, owing to imperfect functioning of the mitral valve. [from CRISP]

MedGen UID:
7670
Concept ID:
C0026266
Finding; Pathologic Function
20.

Abnormal degeneration

Disturbance of cell integrity and deterioration of normal tissue, cells or organs. [from NCI_CDISC]

MedGen UID:
3705
Concept ID:
C0011164
Pathologic Function
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