eosinophil peroxidase deficiency
MONDO:0043364Mondo
Findings
No curated finding names eosinophil peroxidase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Eosinophil nuclear hypersegmentationHPOHP:0034253
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EPXHGNC:3423
- Limited · PanelApp Australia · Autosomal recessive · 2025
- No Known Disease Relationship · Ambry Genetics · Autosomal recessive · 2018