- Glomerulonephritis (HP:0000099): Inflammation of the renal glomeruli. Evidence: IEA. (OMIM:610984)
- Recurrent urinary tract infections (HP:0000010): Repeated infections of the urinary tract. Evidence: IEA. (OMIM:610984)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:610984)
- Decreased circulating complement factor H concentration (HP:0005369): Concentration of the complement component factor H in the blood circulation below the lower limit of normal. Evidence: IEA. (OMIM:610984)
- Recurrent meningitis (HP:0006946): An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. Evidence: PCS. Frequency: 1/3. (PMID:8613545)
- Decreased circulating complement factor I concentration (HP:0005356): Concentration of the complement component factor I in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:8613545)
- Recurrent streptococcus pneumoniae infections (HP:0005366): Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. Evidence: IEA. (OMIM:610984)
- Decreased circulating complement C3 concentration (HP:0005421): Concentration of the complement component C3 in the blood circulation below the lower limit of normal. Evidence: PCS. Frequency: 2/3. (PMID:8613545)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: IEA. (OMIM:610984)
- Recurrent Haemophilus influenzae infection (HP:0005376): Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of Haemophilus influenzae infection. Evidence: IEA. (OMIM:610984)
- Recurrent skin infections (HP:0001581): Infections of the skin that happen multiple times. Evidence: IEA. (OMIM:610984)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. Frequency: 1/2. (PMID:8613545)
- Septic arthritis (HP:0003095). Evidence: PCS. Frequency: 1/3. (PMID:8613545)
- Recurrent Neisseria meningitidis infection (HP:0005381): Increased susceptibility to Neisseria meningitidis infections as manifested by recurrent episodes of Neisseria meningitidis infection. Evidence: PCS. Frequency: 2/3. (PMID:8613545)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/3. (PMID:8613545)
- Pyelonephritis (HP:0012330): An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. Evidence: TAS. (OMIM:610984)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/2. (PMID:8613545)
- 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:8613545)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/3. (PMID:8613545)
- 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. Frequency: 2/3. (PMID:8613545)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: IEA. (OMIM:610984)
These phenotypes are associated with the disease complement factor I deficiency (OMIM:610984).