Ontology Browser

Term:
familial cold autoinflammatory syndrome 1 (DOID:0090062)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
allergic urticaria 
angioedema +   
Aquagenic Urticaria 
familial cold autoinflammatory syndrome 1  
A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 3  
familial cold autoinflammatory syndrome 4  
Muckle-Wells syndrome  
Papular Urticaria 
physical urticaria +   
Urticaria, Familial Localized Heat 

Synonyms
Exact Synonyms: CAPS1 ;   CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1 ;   FCAS1
Primary IDs: OMIM:120100
Alternate IDs: RDO:0007925
Xrefs: ORDO:47045
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/11687797

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.