Phenotypes associated with the disease recurrent Neisseria infections due to factor D deficiency (OMIM:613912):
- Recurrent bacterial infections (HP:0002718): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: PCS. Frequency: 1/1. (PMID:11457876)
- 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:11457876)
- Partial functional complement factor D deficiency (HP:0008338): A partial reduction in level of the complement component Factor D in circulation. Evidence: PCS. Frequency: 1/1. (PMID:11457876)