Disease #00886 (CHBL1 (Chilblain lupus, type 1 (CHBL1)), OMIM:610448)

Official abbreviation CHBL1
Name Chilblain lupus, type 1 (CHBL1)
OMIM ID 610448
Human Phenotype Ontology Project (HPO) HPO
Inheritance AD
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 1 gene TREX1
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Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00112322 - PubMed: Lee-Kirsch 2007 heterozygous mutation - - - - - 0 - - CHBL1 chilblain lupus TREX1 TREX1 1 1 Boukje de Vries
00112324 - Mavrogiannis LA, Lamb T, Flintoff K, Charlton RS - unpublished dominant heterozygous mutation - - - - - 0 - - CHBL1 familial chilblain lupus TREX1 TREX1 1 1 Lampros Mavrogiannis
00112347 - PubMed: Rice 2007 heterozygous mutation - - - - - 0 - - CHBL1 familial chilblain lupus TREX1 TREX1 1 1 Boukje de Vries
00112348 - PubMed: Rice 2007 heterozygous mutation - - - - - 0 - - CHBL1 familial chilblain lupus TREX1 TREX1 1 1 Boukje de Vries
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