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Summary Literature (0)
DOID:0060386 - Chilblain lupus


Disease Ontology Definition:A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.

Synonyms:

In OMIM:
OMIM:610448 - CHILBLAIN LUPUS 1; CHBL1
OMIM:614415 - CHILBLAIN LUPUS 2; CHBL2

In Mondo Disease Ontology:
MONDO:0019557 - chilblain lupus

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : samhd1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): cutaneous lupus erythematosus (is_a)