About: CINCA Syndrome

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An Entity of Type : owl:Class, within Data Space : demo.openlinksw.com associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease autoimmune disease nodeID://b50942118
label	CINCA Syndrome
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090029
database_cross_reference	ICD10CM:E85.0 OMIM:607115 ORDO:1451
has_exact_synonym	IOMID syndrome (en) NOMID syndrome (en) Prieur-Griscelli syndrome (en) cryopyrin-associated periodic syndrome 3 (en) infantile-onset multisystem inflammatory disease (en) neonatal-onset multisystem inflammatory disease (en) chronic infantile neurological cutaneous articular syndrome (en) chronic neurologic cutaneous and articular syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942119

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