- Salmonella osteomyelitis (HP:0005661): Osteomyelitis caused by infection with the bacteria, salmonella. Evidence: PCS. (PMID:15589309)
- Recurrent mycobacterium avium complex infections (HP:0011275): Increased susceptibility to mycobacterial avium complex infections as manifested by recurrent episodes of mycobacterial infection. Evidence: PCS. (PMID:15589309)
- Recurrent mycobacterial infections (HP:0011274): Increased susceptibility to mycobacterial infections as manifested by recurrent episodes of mycobacterial infection. Evidence: PCS. (PMID:15589309)
- Generalized lymphadenopathy (HP:0008940): A generalized form of lymphadenopathy. Evidence: PCS. (PMID:28902581)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:15589309)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:15589309)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. (PMID:28902581)
These phenotypes are associated with the disease autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency (OMIM:615978).