autoimmune lymphoproliferative syndrome type 2B

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Information
Disease name
autoimmune lymphoproliferative syndrome type 2B
Disease ID
DOID:0110116
Description
"An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12353035]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
Disase is a (Disease Ontology)
DOID:6688
Cross Reference ID (Disease Ontology)
ICD10CM:D47.9
Cross Reference ID (Disease Ontology)
MIM:607271
Cross Reference ID (Disease Ontology)
ORDO:275517
Exact Synonym (Disease Ontology)
ALPS with recurrent viral infections
Exact Synonym (Disease Ontology)
ALPS2B
Exact Synonym (Disease Ontology)
autoimmune lymphoproliferative syndrome type IIB
Exact Synonym (Disease Ontology)
autoimmune lymphoproliferative syndrome with recurrent viral infections
Exact Synonym (Disease Ontology)
Caspase 8 deficiency
Exact Synonym (Disease Ontology)
Caspase 8 deficiency syndrome
Exact Synonym (Disease Ontology)
Caspase eight deficiency state
Exact Synonym (Disease Ontology)
CEDS