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Items: 3

1.

Amyloidosis

The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. [from HPO]

MedGen UID:
272
Concept ID:
C0002726
Disease or Syndrome
2.

Cardiac amyloidosis

Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. [from HPO]

MedGen UID:
488730
Concept ID:
C0268407
Disease or Syndrome
3.

Esterase C

MedGen UID:
377036
Concept ID:
C1851476
Finding
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