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Items: 6

1.

Hypertriglyceridemia

An abnormal increase in the level of triglycerides in the blood. [from HPO]

MedGen UID:
167238
Concept ID:
C0813230
Finding
2.

Coronary artery disorder

Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC) [from NCI]

MedGen UID:
365486
Concept ID:
C1956346
Disease or Syndrome
3.

Glaucoma, normal tension, susceptibility to

MedGen UID:
335756
Concept ID:
C1847730
Finding
4.

Congenital alveolar dysplasia

Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. [from HPO]

MedGen UID:
20539
Concept ID:
C0035220
Disease or Syndrome
5.

Hyperlipidemia

An elevated lipid concentration in the blood. [from HPO]

MedGen UID:
5692
Concept ID:
C0020473
Disease or Syndrome
6.

Hypertriglyceridemia 2

Hypertriglyceridemia-2 (HYTG2) is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol. Reduced penetrance has been observed (Lee et al., 2011; Cefalu et al., 2015). [from OMIM]

MedGen UID:
1783778
Concept ID:
C5543398
Disease or Syndrome
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