- common variable immunodeficiency [DOID:12177]
An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.
- EZB-MYC+ diffuse large B-cell lymphoma [DOID:0081070]
An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations.
- myopathy [DOID:423]
A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
- strabismus [DOID:540]
A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object.
- lambda 5 deficiency [DOID:0060024]
A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage.
- obsessive-compulsive disorder [DOID:10933]
An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions).