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DO Term : autoimmune lymphoproliferative syndrome type 2B [DOID:0110116] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
ORDO:275517,
Caspase 8 deficiency syndrome,
autoimmune lymphoproliferative syndrome with recurrent viral infections,
ALPS with recurrent viral infections,
autoimmune lymphoproliferative syndrome type IIB,
ICD10CM:D47.9,
Caspase eight deficiency state,
OMIM:607271,
CEDS,
ALPS2B,
Caspase 8 deficiency,
607271

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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