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Items: 6

1.

TANGIER DISEASE, VARIANT

MedGen UID:
865077
Concept ID:
C4016640
Finding
2.

HIGH DENSITY LIPOPROTEIN DEFICIENCY, TYPE 2

MedGen UID:
865076
Concept ID:
C4016639
Finding
3.

High density lipoprotein deficiency

MedGen UID:
757613
Concept ID:
C3165209
Disease or Syndrome
4.

High density lipoprotein cholesterol level quantitative trait locus 13

MedGen UID:
383157
Concept ID:
C2677643
Finding; Gene or Genome
5.

Coronary heart disease in familial hypercholesterolemia, protection against

MedGen UID:
333164
Concept ID:
C1838721
Finding
6.

Tangier disease

Tangier disease is an autosomal recessive disorder characterized by markedly reduced levels of plasma high density lipoproteins (HDL) resulting in tissue accumulation of cholesterol esters. Clinical features include very large, yellow-orange tonsils, enlarged liver, spleen and lymph nodes, hypocholesterolemia, and abnormal chylomicron remnants (Brooks-Wilson et al., 1999). [from OMIM]

MedGen UID:
52644
Concept ID:
C0039292
Disease or Syndrome
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