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Items: 3

1.

Infectious mononucleosis

A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy caused by infection with the Epstein-Barr virus. Subsequent physical findings may include hepatomegaly, palatal petechiae, jaundice, uvular edema, and splenomegaly. [from NCI]

MedGen UID:
7069
Concept ID:
C0021345
Disease or Syndrome
2.

Esterase C

MedGen UID:
377036
Concept ID:
C1851476
Finding
3.

Enhanced S-cone syndrome

An autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. Characteristics include visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. [from MONDO]

MedGen UID:
341446
Concept ID:
C1849394
Disease or Syndrome
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