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1.

Hyperlipoproteinemia, type 1D

Hyperlipoproteinemia type ID is a rare autosomal recessive disorder characterized by impaired clearance of triglyceride (TG)-rich lipoproteins in plasma, leading to severe hypertriglyceridemia (chylomicronemia). Clinical features include eruptive xanthomas, lipemia retinalis, hepatosplenomegaly, episodes of abdominal pain, and pancreatitis. Onset usually occurs in adulthood (summary by Brahm and Hegele, 2013). For a discussion of genetic heterogeneity of familial chylomicronemia, see 238600. [from OMIM]

MedGen UID:
863204
Concept ID:
C4014767
Disease or Syndrome
2.

Chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase

MedGen UID:
348391
Concept ID:
C1861560
Disease or Syndrome
3.

Hyperlipoproteinemia

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

MedGen UID:
9363
Concept ID:
C0020476
Disease or Syndrome
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