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Items: 2

1.

Cryopyrin associated periodic syndrome

A group of autoinflammatory syndromes caused by mutations in the NLRP3 gene. Signs and symptoms include rash, fever, headache, joint pain, conjunctivitis, and weakness. The symptoms may exacerbate with exposure to cold weather. [from NCI]

MedGen UID:
412215
Concept ID:
C2316212
Disease or Syndrome
2.

Cataract 32

A polar cataract that affects the anterior pole of the lens. [from HPO]

MedGen UID:
340806
Concept ID:
C1855179
Disease or Syndrome; Finding

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