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1.

Pulmonary arterial hypertension

MedGen UID:
425404
Concept ID:
C2973725
Disease or Syndrome
2.

Hypertensive disorder

Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps out blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is the diastolic pressure. . Your blood pressure reading uses these two numbers, the systolic and diastolic pressures. Usually they are written one above or before the other. A reading of : -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is prehypertension. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
3.

Pulmonary Hypertension, Primary, 1, With Hereditary Hemorrhagic Telangiectasia

MedGen UID:
811485
Concept ID:
C3714844
Disease or Syndrome
4.

Hypertension

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

MedGen UID:
635666
Concept ID:
C0497247
Finding
5.

Pulmonary hypertension

Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization. [from HPO]

MedGen UID:
505097
Concept ID:
CN001893
Finding
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.

Primary pulmonary hypertension

Pulmonary arterial hypertension (PAH) is characterized by widespread obstruction and obliteration of the smallest pulmonary arteries. When a sufficient number of vessels are occluded, the resistance to blood flow through the lungs increases, and the right ventricle attempts to compensate by generating higher pressure to maintain pulmonary blood flow. When the right ventricle can no longer compensate for the increased resistance, progressive heart failure ensues. Initial symptoms include dyspnea (60%), fatigue (19%), syncope (8%), chest pain (7%), palpitation (5%), and edema (3%). All ages are affected, but the mean age at diagnosis is 36 years. Mean survival after diagnosis is 2.8 years; current therapy does improve clinical function but has modest effect on survival. The term heritable PAH (HPAH) includes familial PAH (PAH that occurs in two or more family members) and simplex PAH (i.e., a single occurrence in a family) when a causative mutation has been identified. Most heritable PAH (75%) is caused by a mutation in BMPR2; mutations in other genes (i.e., ACVRL1, BMPR1B, CAV1, ENG, SMAD9) are considerably less common (~1%). HPAH has identical symptoms, signs, and histology as PAH of unknown cause. The time from onset of symptoms to diagnosis may be shorter in individuals with familial PAH, possibly because of familial awareness of the disease. Three retrospective studies suggest that persons with PAH who have a BMPR2 mutation exhibit more severe disease. [from GeneReviews]

MedGen UID:
57749
Concept ID:
C0152171
Disease or Syndrome
8.

vessel (polysaccharide)

MedGen UID:
56099
Concept ID:
C0148346
Pharmacologic Substance
9.

Disease Response

The pathologic and/or clinical changes that result from treatment. The changes may include eradication of detectable disease, stabilization of disease, or disease progression. [from NCI]

MedGen UID:
309976
Concept ID:
C1704632
Finding
10.

metaplastic cell transformation

In medicine, the change that a normal cell undergoes as it becomes malignant. [from NCI]

MedGen UID:
266929
Concept ID:
C1510411
Pathologic Function
11.

Mitochondrial inheritance

The distribution of mitochondria, including the mitochondrial genome, into daughter cells after mitosis or meiosis, mediated by interactions between mitochondria and the cytoskeleton. [GOC:mcc, PMID:10873824, PMID:11389764] [from GO]

MedGen UID:
165802
Concept ID:
C0887941
12.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
13.

Chronic

A disease or condition that persists or progresses over a long period of time. [from NCI_NCI-GLOSS]

MedGen UID:
104657
Concept ID:
C0205191
14.

Distal

Situated farthest from a point of reference. [from NCI]

MedGen UID:
64375
Concept ID:
C0205108
15.

Signal Transduction Pathways

Describes a group of molecules in a cell that work together to control one or more cell functions, such as cell division or cell death. After the first molecule in a pathway receives a signal, it activates another molecule. This process is repeated until the last molecule is activated and the cell function involved is carried out. Abnormal activation of signaling pathways can lead to cancer, and drugs are being developed to block these pathways. This may help block cancer cell growth and kill cancer cells. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
16.

Metabolic Networks and Pathways

Complex sets of enzymatic reactions connected to each other via their product and substrate metabolites. [from MeSH]

MedGen UID:
328456
Concept ID:
C1721099
Molecular Function
17.

Biochemical Processes

Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. [from MeSH]

MedGen UID:
267723
Concept ID:
C1511130
Molecular Function
18.

Carbohydrate Metabolism

Cellular processes in biosynthesis (anabolism) and degradation (catabolism) of CARBOHYDRATES. [from MeSH]

MedGen UID:
86224
Concept ID:
C0302820
Molecular Function
19.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Pharmacologic Substance
20.

Respiratory Tract Diseases

MedGen UID:
19750
Concept ID:
C0035242
Disease or Syndrome

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