Phenotypes associated with the disease classic Hodgkin lymphoma (OMIM:236000):
- Hodgkin lymphoma (HP:0012189): A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. Evidence: PCS. Frequency: 3/7. (PMID:19706467)
- Impaired phytohemagglutinin-induced T lymphocyte transformation (HP:0025834): Def: A reduced rate of T lymphocyte transformation in response to in vitro stimulation to the mitogen phytohemagglutinin (PHA). Following PHA stimulation, T cells normally undergo morphological and biochemical alterations that reflect the transformation into lymphoblasts. There are several methods for quantifying this effect including measuring the uptake of the radioactive marker 3H-TdR, methyl thiazolyl tetrazolium colorimetric analysis (MTT assay), and morphological examination under the microscope or using a hematology analyzer. Various types of stimulation index compare the amount of proliferation between treated and control cells. An impaired test refers to a result in which the amount of stimulation is subnormal. Evidence: IEA. (OMIM:236000)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:236000)
- Polyclonal elevation of circulating IgM concentration (HP:0003459): A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. Evidence: IEA. (OMIM:236000)