OBO ID: DOID:0111988
Term Name: immunodeficiency 12 Search Ontology:
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 MALT1 on chromosome 18q21.32. (2)
References:
Ontology: Human Disease   (DOID:0111988)
OTHER immunodeficiency 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MALT1 Immunodeficiency 12 615468
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None