- Elevated erythrocyte sedimentation rate (HP:0003565): An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. Evidence: PCS. Frequency: 5/6. (PMID:30532310)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. Frequency: 6/6. (PMID:30532310)
- Palmoplantar pustulosis (HP:0100847): A chronic, relapsing, pustular eruption that is localized to the palms and soles. Evidence: PCS. (PMID:30532310)
- 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: TAS. (OMIM:259680)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: PCS. Frequency: 2/6. (PMID:30532310)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. Frequency: 6/6. (PMID:30532310)
These phenotypes are associated with the disease chronic recurrent multifocal osteomyelitis 3 (OMIM:259680).