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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:
Echinobase Genes :
MIM:120100 - familial cold autoinflammatory syndrome 1; fcas1 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee