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chilblain lupus 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any chilblain lupus in which the cause of the disease is a mutation in the SAMHD1 gene.
Uniprot Description A rare cutaneous form of lupus erythematosus. Affected individuals present with painful bluish-red papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure at temperatures less than 10 degrees centigrade.
Mondo Term and Equivalent IDs
MONDO:0013739:  chilblain lupus 2
UMLS:C3280721: