- Abnormality of blood and blood-forming tissues (HP:0001871): An abnormality of the hematopoietic system. Evidence: IEA. (OMIM:254600)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:254600)
- Reduced neutrophil myeloperoxidase activity (HP:6000375): Concentration or activity of myeloperoxidase (EC 1.11.1.7) as measured in neutrophils is below the limits of normal. Evidence: TAS. (OMIM:254600)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: IEA. (OMIM:254600)
- Diminished neutrophil myeloperoxidase activity (HP:6000513): Activity of the enzyme myeloperoxidase (EC 1.11.1.7) in neutrophils below the lower limit of normal. This feature can be measured by peroxidase cytochemistry or biochemical assays. Myeloperoxidase is a lysosomal hemoprotein located in the azurophilic granules of polymorphonuclear leukocytes and monocytes. Evidence: PCS. Frequency: 1/1. (PMID:9354683)
- 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: IEA. (OMIM:254600)
These phenotypes are associated with the disease myeloperoxidase deficiency (OMIM:254600).