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DO Term : familial cold autoinflammatory syndrome 4 [DOID:0090065] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • FCAS4,
  • ORDO:47045,
  • 616115,
  • OMIM:616115,
  • ICD10CM:L50.2
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents