familial cold autoinflammatory syndrome 1

Summary

DOID:0090062 - familial cold autoinflammatory syndrome 1

Disease Ontology Definition:A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: nlrp3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007349 - familial cold autoinflammatory syndrome 1

MONDO:0007349 - familial cold autoinflammatory syndrome 1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), familial cold autoinflammatory syndrome (is_a)