Search Ontology:
Human Disease
immunodeficiency 12
- Term ID
- DOID:0111988
- Synonyms
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- 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
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- MIM:615468
- ORDO:397964
- Ontology
- Human Disease ( DOID:0111988 )
- is a type of
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Genes Involved
Zebrafish Models