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DO Term : immunodeficiency 12 [DOID:0111988] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32.
  • synonyms:
  • IMD12,
  • combined immunodeficiency due to MALT1 deficiency,
  • 615468,
  • OMIM:615468,
  • ORDO:397964
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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