Disease #01256 (FCAS-1 (autoinflammatory syndrome, cold, familial, type 1 (FCAS-1)), OMIM:120100)

Official abbreviation FCAS-1
Name autoinflammatory syndrome, cold, familial, type 1 (FCAS-1)
OMIM ID 120100
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene NLRP3
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00386383 - Journal: Hofman 2020 - - - Netherlands - - 0 - - FCAS-1 Autoinflammatory syndrome characterized by cold-inducible urticaria, arthralgia, fever,and fatigue F12 F12 1 4 Christian Drouet
Legend   How to query