Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/607115 http://purl.bioontology.org/ontology/OMIM/607115
Preferred Name	CINCA SYNDROME
Synonyms	CAPS3 MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL-ONSET CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME CINCA NOMID CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CAPS3 MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL-ONSET CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME CINCA NOMID CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 3 See more See less
prefLabel	CINCA SYNDROME
Gene Symbol	FCU NLRP3 CIAS1 FCAS1 DFNA34 NALP3 KEFH PYPAF1 See more See less
Scope Statement	Caused by heterozygous mutation in the NLR family, pyrin domain-containing 3 gene (NLRP3, 606416.0007) [MOLECULAR BASIS] Age of onset, neonatal to 3 years [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU003093 http://purl.bioontology.org/ontology/OMIM/MTHU057240 http://purl.bioontology.org/ontology/OMIM/MTHU057238 http://purl.bioontology.org/ontology/OMIM/MTHU057242 http://purl.bioontology.org/ontology/OMIM/MTHU006388 http://purl.bioontology.org/ontology/OMIM/MTHU057241 http://purl.bioontology.org/ontology/OMIM/MTHU044978 http://purl.bioontology.org/ontology/OMIM/MTHU000166 http://purl.bioontology.org/ontology/OMIM/MTHU057239 http://purl.bioontology.org/ontology/OMIM/MTHU008755 http://purl.bioontology.org/ontology/OMIM/MTHU057243 http://purl.bioontology.org/ontology/OMIM/MTHU057244 See more See less
tui	T047
Gene Locus	1q44
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	607115
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C0409818
OMIM Entry Type	3
OMIM MimType Value	pound

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