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DO Term : familial cold autoinflammatory syndrome 2 [DOID:0090063] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.
  • synonyms:
  • MESH:C567090,
  • NLRP12-associated hereditary periodic fever syndrome,
  • FCAS2,
  • OMIM:611762,
  • 611762
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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