OBO ID: DOID:0060386
Term Name: Chilblain lupus Search Ontology:
Synonyms:
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. https://www.omim.org/entry/610448
References:
Ontology: Human Disease   ( DOID:0060386 )
OTHER Chilblain lupus PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SAMHD1 ?Chilblain lupus 2 614415
TREX1 Chilblain lupus
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None