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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:

Xenbase Genes : samhd1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019557 - chilblain lupus

MIM:
MIM:610448 - CHILBLAIN LUPUS 1; CHBL1
MIM:614415 - CHILBLAIN LUPUS 2; CHBL2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): cutaneous lupus erythematosus (is_a)