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GTR Home > Conditions/Phenotypes > Familial cold autoinflammatory syndrome 1

Familial cold autoinflammatory syndrome 1

Synonyms
CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1; Familial cold inflammatory syndrome 1

"VSports手机版" Summary

Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRP3 gene. [from MONDO]

Available tests

28 tests are in the database for this condition.

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Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • "V体育官网入口" NLRP3

    132 tests

    Also known as: AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1 VSports最新版本. 1, DFNA34, FCAS, FCAS1, FCU, KEFH, MWS, NALP3, PYPAF1, "V体育官网入口" NLRP3Summary: NLR family pyrin domain containing 3.

"VSports在线直播" Clinical features

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Imported from Human Phenotype Ontology (HPO)

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