About: familial cold autoinflammatory syndrome 4

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease familial cold autoinflammatory syndrome nodeID://b50942194
label	familial cold autoinflammatory syndrome 4
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090065
database_cross_reference	ICD10CM:L50.2 OMIM:616115 ORDO:47045
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942195

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