Search Ontology:
Human Disease

immunodeficiency 12

Term ID
DOID:0111988
Synonyms
  • combined immunodeficiency due to MALT1 deficiency
  • IMD12
Definition
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. (2)
References
Ontology
Human Disease   ( DOID:0111988 )
Relationships
is a type of
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Genes Involved
Zebrafish Models