Visualize Submit Comment

Metadata
ID	DOID:0090062
Name	familial cold autoinflammatory syndrome 1
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. https://www.ncbi.nlm.nih.gov/pubmed/11687797
Xrefs	ICD10CM:L50.2 MIM:120100 ORDO:47045
Subsets	DO_rare_slim
Synonyms	FCAS1 [EXACT]
Parent Relationships	is_a familial cold autoinflammatory syndrome is_a autosomal dominant disease
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance