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Summary Literature (0)
DOID:0110116 - autoimmune lymphoproliferative syndrome type 2B

Disease Ontology Definition:An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33.

Synonyms: ALPS with recurrent viral infections, ALPS2B, autoimmune lymphoproliferative syndrome type IIB, autoimmune lymphoproliferative syndrome with recurrent viral infections, Caspase 8 deficiency, Caspase 8 deficiency syndrome, Caspase eight deficiency state, CEDS

Xenbase Genes : casp8

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011804 - autoimmune lymphoproliferative syndrome type 2B

MIM:
MIM:607271 - CASPASE 8 DEFICIENCY

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autoimmune lymphoproliferative syndrome (is_a), autosomal recessive disease (is_a)