- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: PCS. (PMID:24152280)
- Meningitis (HP:0001287): Inflammation of the meninges. Evidence: PCS. (PMID:24152280)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:24152280)
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. (PMID:24152280)
- 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: PCS. (PMID:24152280)
- Recurrent Neisseria meningitidis infection (HP:0005381): Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. Evidence: PCS. (PMID:24152280)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. (PMID:24152280)
- Decreased circulating complement factor B concentration (HP:0005416): Concentration of the complement component factor B in the blood circulation below the lower limit of normal. Evidence: PCS. (PMID:24152280)
These phenotypes are associated with the disease complement factor b deficiency (OMIM:615561).