Disease

autoimmune lymphoproliferative syndrome type 2B

Name: autoimmune lymphoproliferative syndrome type 2B
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110116 autoimmune lymphoproliferative syndrome type 2B An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. ALPS with recurrent viral infections ALPS2B Caspase 8 deficiency Caspase eight deficiency state autoimmune lymphoproliferative syndrome type IIB CEDS Caspase 8 deficiency syndrome autoimmune lymphoproliferative syndrome with recurrent viral infections

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

Cross References

ICD10CM:D47.9
MIM:607271

Parent Terms

autoimmune lymphoproliferative syndrome
autosomal recessive disease

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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