Metadata | |
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ID | DOID:0061101 |
Name | immunodeficiency 132A |
Definition | A primary immunodeficiency disease that is characterized by increased susceptibility to infection with certain pathogens and that has_material_basis_in heterozygous dominant-negative mutation in the TRAF3 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/36004314/ |
Xrefs | |
Synonyms |
IMD132A [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |