Visualize Submit Comment
Metadata
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

MIM:614849

Synonyms

IMD132A [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a primary immunodeficiency disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

Add an item to the term tracker