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Items: 3

1.

Cardiomyopathy, mitochondrial

MedGen UID:
759352
Concept ID:
C3532239
Disease or Syndrome
2.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
3.

Isolated optic neuritis

A rare inflammatory optic neuropathy characterized by isolated episodes (either single or recurrent) of optic neuritis not associated with other neurological or systemic disease. Patients typically present with subacute unilateral loss of vision progressing over several days to two weeks, periocular pain and pain on eye movement (which may precede the onset of visual symptoms), light flashes on eye movement, abnormal color vision, reduced contrast sensitivity, and relative afferent pupillary defect. The optic disc appears swollen in many patients, and uveitis may be associated and can be present for years before the onset of optic neuritis. [from ORDO]

MedGen UID:
43952
Concept ID:
C0022023
Element, Ion, or Isotope
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